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1. Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants

Author

François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, and Dominique Prié

Subjects
Medicine, Science
Abstract

Abstract Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans, without urinary phosphate leakage. The mechanisms by which SLC34A3 variants disrupt phosphate/calcium metabolism are un-completely understood. In this study we explored these mechanisms in vitro using SLC34A3 variants identified in patients with urinary phosphate leakage. We analyzed the consequences of these variants on NPT2c function and the link with the phenotype of the patients. We studied 20 patients with recurrent nephrolithiasis and low serum phosphate concentration harboring variants in the SLC34A3 gene. Half of the patients carried homozygous or composite heterozygous variants. Three patients had in addition variants in SLC34A1 and SLC9A3R1 genes. All these patients benefited from a precise analysis of their phenotype. We generated 13 of these mutants by site-directed mutagenesis. Then we carried out transient transfections of these mutants in HEK cells and measured their phosphate uptake capacity under different conditions. Among the 20 patients included, 3 had not only mutations in NPT2c but also in NPT2a or NHERF1 genes. Phosphate uptake was decreased in 8 NPT2c mutants studied and normal for 5. Four variants were initially categorized as variants of uncertain significance. Expression of the corresponding mutants showed that one did not modify phosphate transport, two reduced it moderately and one abolished it. Co-transfection of the NPT2c mutants with the wild-type plasmid of NPT2c or NPT2a did not reveal dominant negative effect of the mutants on NPT2c-mediated phosphate transport. A detailed analysis of patient phenotypes did not find a link between the severity of the disorder and the level of phosphate transport impairment. NPT2c mutations classified as ACMG3 identified in patients with renal phosphate leak should be characterized by in vitro study to check if they alter NPT2c-mediated phosphate transport since phosphate uptake capacity may not be affected. In addition, research for mutations in NHERF1 and NPT2a genes should always be associated to NPT2c sequencing.

Published
2023
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2. Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Author

Jean-Philippe Bertocchio, Natalie Grosset, Lionel Groussin, Peter Kamenický, Fabrice Larceneux, Anne Lienhardt-Roussie, Agnès Linglart, Gérard Maruani, Eric Mirallie, François Pattou, Riyad N H Seervai, Coralie Sido, Caroline Silve, Aurélie Vilfaillot, Antoine Tabarin, Marie-Christine Vantyghem, and Pascal Houillier

Subjects
hypoparathyroidism, practice patterns, physicians, epidemiological studies, hypocalcemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Context: Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians’ practices or their adherence to such guidelines. Objective: To describe the physicians’ practice patterns and their compliance with international guidelines. Design: The cohort studies included were Épi-Hypo (118 physicians and 107 patients, from September 2016 to December 2019) and ePatients (110 patients, November 2019). Methods: Internet-based cohorts involving all settings at a nationwide level (France). Participants were (i) physicians treating patients with chronic hypoparathyroidism and patients with chronic hypoparathyroidism either participating in the (ii) Épi-Hypo study (Épi-Hypo 2019 patients), or (iii) Hypoparathyroidism France, the national representative association (ePatients).

Published
2022
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3. Cherubism as a systemic skeletal disease: evidence from an aggressive case

Author

Anne Morice, Aline Joly, Manon Ricquebourg, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoann Vial, Hélène Cavé, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Amelie E. Coudert, and Natacha Kadlub

Subjects
Cherubism, SH3BP2 protein, Systemic inflammation, Bone loss phenotype, Case report, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear giant cells. SH3BP2 is a ubiquitous adaptor protein yet the consequences of SH3BP2 mutation have so far been described as impacting only face. Cherubism mouse models have been generated and unlike human patients, the knock-in mice exhibit systemic bone loss together with a systemic inflammation. Case presentation In light of these observations, we decided to search for a systemic cherubism phenotype in a 6-year-old girl with an aggressive cherubism. We report here the first case of cherubism with systemic manifestations. Bone densitometry showed low overall bone density (total body Z-score = − 4.6 SD). Several markers of bone remodelling (CTx, BALP, P1NP) as well as inflammation (TNFα and IL-1) were elevated. A causative second-site mutation in other genes known to influence bone density was ruled out by sequencing a panel of such genes. Conclusions If this systemic skeletal cherubism phenotype should be confirmed, it would simplify the treatment of severe cherubism patients and allay reservations about applying a systemic treatment such as those recently published (tacrolimus or imatinib) to a disease heretofore believed to be localised to the jaws.

Published
2020
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4. Cherubism: A systemic skeletal disease? About a case report

Author

Anne Morice, Manon Ricquebourg, Aline Joly, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoan Vial, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Natacha Kadlub, and Amélie Coudert

Subjects
Diseases of the musculoskeletal system, RC925-935
Published
2020
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5. Signification of distal urinary acidification defects in hypocitraturic patients.

Author

Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, and Marie Courbebaisse

Subjects
Medicine, Science
Abstract

BACKGROUND AND OBJECTIVES:Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. MATERIALS AND METHODS:This retrospective observational study included 67 patients (32 men), aged 40.7±15.1 years with hypocitraturia (

Published
2017
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6. Combining robust urine biomarkers to assess chronic kidney disease progression

Author

Vrtovsnik, François, Daugas, Eric, Flamant, Martin, Vidal-Petiot, Emmanuelle, Jacquot, Christian, Karras, Alexandre, Roueff, Stéphane, Thervet, Eric, Houillier, Pascal, Courbebaisse, Marie, Eladari et Gérard Maruani, Dominique, Urena-Torres, Pablo, Boffa, Jean-Jacques, Ronco, Pierre, Fessi, H., Rondeau, Eric, Letavernier, Emmanuel, Tabibzadeh, Nahid, Haymann, Jean-Philippe, Bienaimé, Frank, Muorah, Mordi, Metzger, Marie, Broeuilh, Melanie, Houiller, Pascal, Vonderscher, Jacky, Mizrahi, Jacques, Friedlander, Gérard, Stengel, Bénédicte, and Terzi, Fabiola

Published
2023
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7. Combining robust urine biomarkers to assess chronic kidney disease progression

Author

Bienaimé, Frank, primary, Muorah, Mordi, additional, Metzger, Marie, additional, Broeuilh, Melanie, additional, Houiller, Pascal, additional, Flamant, Martin, additional, Haymann, Jean-Philippe, additional, Vonderscher, Jacky, additional, Mizrahi, Jacques, additional, Friedlander, Gérard, additional, Stengel, Bénédicte, additional, Terzi, Fabiola, additional, Vrtovsnik, François, additional, Daugas, Eric, additional, Vidal-Petiot, Emmanuelle, additional, Jacquot, Christian, additional, Karras, Alexandre, additional, Roueff, Stéphane, additional, Thervet, Eric, additional, Houillier, Pascal, additional, Courbebaisse, Marie, additional, Eladari et Gérard Maruani, Dominique, additional, Urena-Torres, Pablo, additional, Boffa, Jean-Jacques, additional, Ronco, Pierre, additional, Fessi, H., additional, Rondeau, Eric, additional, Letavernier, Emmanuel, additional, and Tabibzadeh, Nahid, additional

Published
2023
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8. Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants

Author

François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, and Dominique Prié

Subjects
Mice, Multidisciplinary, Phenotype, Mutation, Humans, Animals, Familial Hypophosphatemic Rickets, Kidney, Phosphates
Abstract

Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans, without urinary phosphate leakage. The mechanisms by which SLC34A3 variants disrupt phosphate/calcium metabolism are un-completely understood. In this study we explored these mechanisms in vitro using SLC34A3 variants identified in patients with urinary phosphate leakage. We analyzed the consequences of these variants on NPT2c function and the link with the phenotype of the patients. We studied 20 patients with recurrent nephrolithiasis and low serum phosphate concentration harboring variants in the SLC34A3 gene. Half of the patients carried homozygous or composite heterozygous variants. Three patients had in addition variants in SLC34A1 and SLC9A3R1 genes. All these patients benefited from a precise analysis of their phenotype. We generated 13 of these mutants by site-directed mutagenesis. Then we carried out transient transfections of these mutants in HEK cells and measured their phosphate uptake capacity under different conditions. Among the 20 patients included, 3 had not only mutations in NPT2c but also in NPT2a or NHERF1 genes. Phosphate uptake was decreased in 8 NPT2c mutants studied and normal for 5. Four variants were initially categorized as variants of uncertain significance. Expression of the corresponding mutants showed that one did not modify phosphate transport, two reduced it moderately and one abolished it. Co-transfection of the NPT2c mutants with the wild-type plasmid of NPT2c or NPT2a did not reveal dominant negative effect of the mutants on NPT2c-mediated phosphate transport. A detailed analysis of patient phenotypes did not find a link between the severity of the disorder and the level of phosphate transport impairment. NPT2c mutations classified as ACMG3 identified in patients with renal phosphate leak should be characterized by in vitro study to check if they alter NPT2c-mediated phosphate transport since phosphate uptake capacity may not be affected. In addition, research for mutations in NHERF1 and NPT2a genes should always be associated to NPT2c sequencing.

Published
2022

9. Tubular Acidification Defect in Adults with Sickle Cell Disease

Author

Pablo Bartolucci, Frédéric Galactéros, Gérard Maruani, Thomas Stehlé, Nicolas Cornière, Jean-Philippe Bertocchio, Hamza Ayari, Vincent Audard, Anoosha Habibi, Stéphanie Baron, Jugurtha Berkenou, Pascal Houillier, Maud Cazenave, Marie Courbebaisse, Gérard Friedlander, and Caroline Prot-Bertoye

Subjects
Adult, Male, medicine.medical_specialty, Epidemiology, Urinary system, 030232 urology & nephrology, Anemia, Sickle Cell, Urine, 030204 cardiovascular system & hematology, Kidney Function Tests, Critical Care and Intensive Care Medicine, Gastroenterology, Kidney Concentrating Ability, Excretion, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Sodium Potassium Chloride Symporter Inhibitors, Furosemide, Internal medicine, Ammonium Compounds, Humans, Medicine, Impaired urinary acidification, Prospective Studies, Acidosis, Transplantation, business.industry, Osmolar Concentration, Metabolic acidosis, Original Articles, Hydrogen-Ion Concentration, medicine.disease, Sickle cell anemia, Renal Elimination, Kidney Tubules, Nephrology, Fludrocortisone, Urine osmolality, Female, medicine.symptom, business, Glomerular Filtration Rate
Abstract

BACKGROUND AND OBJECTIVES: Metabolic acidosis is a frequent manifestation of sickle cell disease but the mechanisms and determinants of this disorder are unknown. Our aim was to characterize urinary acidification capacity in adults with sickle cell disease and to identify potential factors associated with decreased capacity to acidify urine. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Among 25 adults with sickle cell disease and an eGFR of ≥60 ml/min per 1.73 m(2) from a single center in France, we performed an acute acidification test after simultaneous administration of furosemide and fludrocortisone. A normal response was defined as a decrease in urinary pH

Published
2019

11. Cherubism: A systemic skeletal disease? About a case report

Author

Kahina Belhous, Louise Galmiche, Natacha Kadlub, Aline Joly, Jeanne Amiel, Amélie E. Coudert, Emmanuel Durand, Gérard Maruani, Yoan Vial, Arnaud Picard, Manon Ricquebourg, Anne Morice, Marie Piketty, Ariane Berdal, Corinne Collet, and Martine Cohen-Solal

Subjects
medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, business.industry, Endocrinology, Diabetes and Metabolism, Skeletal disease, medicine, Orthopedics and Sports Medicine, lcsh:RC925-935, medicine.disease, business, Dermatology, Cherubism
Published
2020

12. FGF23 measurement in burosumab-treated patients: an emerging treatment may induce a new analytical interference

Author

Gérard Maruani, Marie-Liesse Piketty, Agnès Linglart, Anya Rothenbuhler, Dominique Prié, Christelle Audrain, Jean-Claude Souberbielle, and Severine Brabant

Subjects
Oncology, Immunoassay, medicine.medical_specialty, medicine.diagnostic_test, Adolescent, business.industry, Biochemistry (medical), Clinical Biochemistry, MEDLINE, General Medicine, Antibodies, Monoclonal, Humanized, Fibroblast Growth Factors, Fibroblast Growth Factor-23, Interference (communication), Internal medicine, medicine, Humans, Female, Familial Hypophosphatemic Rickets, business, Child, False Negative Reactions
Published
2020

13. Role of myocardial collagen degradation and fibrosis in right ventricle dysfunction in transposition of the great arteries after atrial switch

Author

Magalie Ladouceur, Anne Blanchard, Pierre Boutouyrie, Gérard Maruani, Elie Mousseaux, Valérie Nivet-Antoine, Helena Pereira, Gilles Soulat, Stéphanie Baron, and Jean-Louis Paul

Subjects
Adult, Male, medicine.medical_specialty, Transposition of Great Vessels, Ventricular Dysfunction, Right, Diastole, 030204 cardiovascular system & hematology, Doppler echocardiography, 03 medical and health sciences, 0302 clinical medicine, Afterload, Cardiac magnetic resonance imaging, Internal medicine, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Ejection fraction, medicine.diagnostic_test, business.industry, Myocardium, medicine.disease, Fibrosis, Arterial Switch Operation, Cross-Sectional Studies, medicine.anatomical_structure, Ventricle, Heart failure, Cardiology, Female, Myocardial fibrosis, Collagen, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Background Heart failure is a serious event in patients with transposition of the great arteries (D-TGA) after atrial redirection surgery. We aimed to determine the association between myocardial fibrosis and systolic and diastolic systemic right ventricle (sRV) dysfunction. Methods Diastolic and systolic function of sRV was prospectively assessed using echocardiography and cardiac magnetic resonance imaging (CMR) in 48 patients with atrially switched D-TGA and 26 healthy subjects. Diastolic function of the subaortic ventricle was assessed by echocardiography Doppler and DTI. In CMR, ejection fraction of sRV and wall stress defined as the product of the systolic blood pressure and volume/mass ratio were assessed. Fibrosis extent within sRV myocardium was evaluated using gadolinium-enhanced magnetic resonance and serum collagen turnover biomarkers. Results Late gadolinium enhancement (LGE) was found in 35% of D-TGA patients, and the collagen degradation biomarker pro-MMP1:TIMP1 ratio was significantly increased in D-TGA patients compared to healthy subjects (1.0 × 10 −2 vs. 2.5 × 10 −2 , p = 0.04). Increase in sRV wall stress was significantly associated with LGE ( p = 0.01) and pro-MMP1:TIMP1 ratio ( r = 0.77, p 2 = 0.85, p r = 0.53, p = 0.02), but this was not anymore the case after adjustment. Conclusions Diastolic and systolic sRV dysfunction is related to myocardial collagen degradation and fibrosis. Research in medical therapies that reduce systemic sRV afterload and limit collagen degradation is warranted in this setting.

Published
2018

14. Lithiase rénale de l’adulte : des mécanismes au traitement médical préventif

Author

Stéphanie Baron, S. Briand, M. Daudon, Jean-Philippe Bertocchio, Gérard Maruani, Pascal Houillier, Caroline Prot-Bertoye, and Marie Courbebaisse

Subjects
medicine.medical_specialty, business.industry, 030232 urology & nephrology, Gastroenterology, Allopurinol, Urine, Cystinuria, 030204 cardiovascular system & hematology, medicine.disease, Excretion, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Internal medicine, Internal Medicine, Uric acid, Medicine, Hypercalciuria, Nephrocalcinosis, business, Kidney disease, medicine.drug
Abstract

Nephrolithiasis is a very common (prevalence around 10 to 12% in France) and recurrent disorder. Nephrolithiasis is associated to chronic kidney disease and is responsible for 2 to 3% of cases of end-stage renal disease, mainly if it is associated to nephrocalcinosis or to a monogenic disorder (1.6% of nephrolithiasis in adults, among them 1% of cystinuria). To understand the underlying pathophysiological processes, stone analysis (morphology and using infrared spectrophotometry) as well as minimal biological assessment including urine crystal research are required. The calcic nephrolithiasis is the more frequent subtype (>80%). Its medical treatment relies on simple dietary rules: non-alkaline hyperdiuresis>2 liters/day, calcium intake normalization (1 gram per day divided between the three principal meals), normalization of sodium (6 to 7 grams per day) and protein intake (1g/kg of theoretical body weight/day), and eviction of foods rich in oxalate. In case of persistent hypercalciuria (>0.1mmol/kg of theoretical body weight/day on free diet), a thiazide diuretic can be started while being aware to correct iatrogenic decrease in plasma potassium and urine citrate excretion. Measurement of bone mineral density must systematically be performed in patients with high 24 h-urinary calcium excretion. The medical treatment of uric acid nephrolithiasis relies on alkaline hyperdiuresis (goal of urine pH: 6.2 to 6.8). The use of allopurinol is justified only if urine uric acid is over 4mmol/day. Thanks to a well-managed preventive medical treatment, one can expect to stop the activity of nephrolithiasis in more than 80% of cases, making it one of the most accessible renal pathologies to preventive medical treatment.

Published
2017

15. Fasting Urinary Osmolality, CKD Progression, and Mortality: A Prospective Observational Study

Author

Jean-Philippe Haymann, Emmanuel Letavernier, Emmanuelle Vidal-Petiot, Martin Flamant, H. Fessi, Christian Jacquot, Jean-Jacques Boffa, Caroline du Halgouet, Pascal Houillier, Marion Vallet, Sandra Wagner, Gérard Maruani, Renaud de la Faille, François Vrtovsnik, Pierre Ronco, Eric Thervet, Eric Daugas, Marine Livrozet, Laurence Nicolet-Barousse, Marie Metzger, Bénédicte Stengel, Nahid Tabibzadeh, Alexandre Karras, Service d'Explorations fonctionnelles multidisciplinaires [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), French-Clinical Research Infrastructure Network [Lyon] (FCRIN INI-CRCT - Coordination Nationale Réseau FORCE), Centre de Recherche en Nutrition Humaine Rhône-Alpes (CRNH-RH), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-CHU Saint-Etienne-Hospices Civils de Lyon (HCL)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-CHU Saint-Etienne-Hospices Civils de Lyon (HCL)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Physiologie [Bichat-Claude Bernard], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de Physiologie [Georges-Pompidou], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunopathologie rénale, récepteurs et inflammation, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, CHU Tenon [APHP], Service de Néphrologie et Dialyses [CHU Tenon], Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de Néphrologie et Hémodialyse [CHU HEGP], Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, F-CRIN, INICRCT network, Paris, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), and NephroTest Study Group: Marine Livrozet, Emmanuel Letavernier, Pierre Ronco, Hafedh Fessi, Emmanuelle Vidal-Petiot, Eric Daugas, Caroline du Halgouet, Renaud de La Faille, Gerard Maruani, Marion Vallet, Laurence Nicolet-Barousse, Alexandre Karras, Christian Jacquot

Subjects
Male, urine concentration ability, 030232 urology & nephrology, Urine osmolality, urologic and male genital diseases, tubular damage, 0302 clinical medicine, Risk Factors, 030212 general & internal medicine, Prospective Studies, prognostic factor, ComputingMilieux_MISCELLANEOUS, Fasting, Middle Aged, Prognosis, female genital diseases and pregnancy complications, 3. Good health, Survival Rate, Nephrology, Disease Progression, Biomarker (medicine), biomarker, Female, France, medicine.symptom, glomerular filtration rate (GFR), Cohort study, Glomerular Filtration Rate, medicine.medical_specialty, Urinary system, CKD progression, Urology, chronic kidney disease (CKD), 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, Risk factor, Renal Insufficiency, Chronic, business.industry, Osmolar Concentration, medicine.disease, measured GFR (mGFR), Decreased glomerular filtration rate, end-stage renal disease (ESRD), Albuminuria, GFR decline, business, Biomarkers, Kidney disease
Abstract

International audience; Rationale & objective: Chronic kidney disease (CKD) characterized by decreased glomerular filtration rate (GFR) is often accompanied by various degrees of impaired tubular function in the cortex and medulla. Assessment of tubular function may therefore be useful in establishing the severity of kidney disease and identifying those at greater risk for CKD progression. We explored reductions in urinary concentrating ability, a well-known feature of CKD, as a risk factor for GFR decline and end-stage renal disease (ESRD).Study design: Prospective longitudinal cohort study.Setting & participants: 2,084 adult patients with CKD stages 1 to 4 from the French NephroTest Cohort Study.Predictor: Fasting urinary osmolality measured using delta cryoscopy.Outcomes: ESRD, mortality before ESRD, and measured GFR (mGFR) assessed using 51Cr-EDTA renal clearance.Analytical approach: Cause-specific hazards models were fit to estimate crude and adjusted associations of urinary osmolality with ESRD and death before ESRD. Linear mixed models with random intercepts were fit to evaluate the association of urinary osmolality with slope of decline in mGFR.Results: At baseline, mean age was 58.7±15.2 (SD) years with a median mGFR of 40.2 (IQR, 29.1-54.5) mL/min/1.73m2 and a median fasting urinary osmolality of 502.7±151.7mOsm/kg H2O. Baseline fasting urinary osmolality was strongly associated with mGFR (R=0.54; P < 0.001). 380 ESRD events and 225 deaths before ESRD occurred during a median follow-up of 5.9 (IQR, 3.8-8.2) years. Patients with lower baseline fasting urinary osmolality had higher adjusted risk for ESRD but not for mortality (HRs of 1.97 [95% CI, 1.26-3.08] and 0.99 [95% CI, 0.68-1.44], respectively, for the lowest vs highest tertile). Based on a mixed linear model adjusted for baseline mGFR and clinical characteristics, patients in the lowest tertile of baseline urinary osmolality had a steeper decline in kidney function (-4.9% ± 0.9% per year; P < 0.001) compared with patients in the highest tertile.Limitations: Fasting was self-reported.Conclusions: Fasting urinary osmolality may be a useful tool, in addition to GFR and albuminuria, for assessing nonglomerular damage in patients with CKD who are at higher risk for CKD progression.

Published
2019

16. Extracellular fluid volume is associated with incident end-stage kidney disease and mortality in patients with chronic kidney disease

Author

Anne-Laure Faucon, Martin Flamant, Marie Metzger, Jean-Jacques Boffa, Jean-Philippe Haymann, Pascal Houillier, Eric Thervet, François Vrtovsnik, Bénédicte Stengel, Guillaume Geri, Emmanuelle Vidal-Petiot, Eric Daugas, Nahid Tabibzadeh, Alexandre Karras, Stéphane Roueff, Marie Courbebaisse, Caroline Prot-Bertoye, Jean-Philippe Bertocchio, Gérard Maruani, Pierre Ronco, Hafedh Fessi, Eric Rondeau, Marine Livrozet, Emmanuel Letavernier, Pablo Urena-Torres, Centre Hospitalier Sud Francilien, CH Evry-Corbeil, Service de Réanimation polyvalente, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), Immunopathologie rénale, récepteurs et inflammation, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Explorations fonctionnelles multidisciplinaires [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Physiologie [Bichat-Claude Bernard], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service de Physiologie [Georges-Pompidou], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre de recherche Croissance et signalisation (UMR_S 845), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Tenon [APHP], and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, 030232 urology & nephrology, Urology, Water-Electrolyte Imbalance, Renal function, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Extracellular fluid, Medicine, Humans, Prospective Studies, Risk factor, Renal Insufficiency, Chronic, ComputingMilieux_MISCELLANEOUS, Aged, Body surface area, business.industry, Incidence, Hazard ratio, Extracellular Fluid, Middle Aged, medicine.disease, Prognosis, Confidence interval, 3. Good health, 030104 developmental biology, Nephrology, Cohort, Disease Progression, Kidney Failure, Chronic, Female, business, Kidney disease, Glomerular Filtration Rate
Abstract

Volume overload has been shown to be an independent risk factor for mortality in patients receiving chronic dialysis, but data in non-dialysis patients are scarce. Therefore we evaluated the prognostic value of extracellular fluid (ECF) volume for chronic kidney disease (CKD) progression and mortality in a prospective hospital-based cohort with CKD stage 1-4 (NephroTest Study). ECF (scaled to body surface area) and the measured glomerular filtration rate (mGFR) were determined using the distribution volume and clearance of 51Cr-EDTA, respectively. Cause-specific Cox and linear mixed-effect regression models were used to analyze the association of ECF with end-stage kidney disease (ESKD) and mortality, and with mGFR decline, respectively. The 1593 patients were mean age 58.8 years, 67% were men, mean mGFR of 43.6 mL/min/1.73m2 and mean ECF 15.1 L/1.73m2. After a median follow-up of 5.3 years, ESKD occurred in 324 patients and 185 patients died before ESKD. In multivariable analysis, ECF was significantly associated with the risk of ESKD (hazard ratio per 1L/1.73m2 increase: 1.14; 95% confidence interval [1.07; 1.21]) and with a faster GFR decline (adjusted mean difference in mGFR slope per 1L/1.73m2 increase -0.14 [-0.23; -0.05] mL/min/year). The relationship of ECF with mortality was non-linear and not significant (per 1L/1.73m2 increase 0.92, [0.73; 1.16]), below 15L/1.73m2, but significant (1.28; [1.14-1.45]) above 15L/1.73m2. Thus, in this large cohort of carefully phenotyped patients with CKD, ECF was an independent risk factor of CKD progression and mortality. Hence, close monitoring and treatment of fluid overload are important for the clinical management of patients with non-dialysis CKD.

Published
2019

17. Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

Author

Jean-Philippe Haymann, Delphine Vezzosi, Elisabeth Requeda, Agnès Linglart, Guy Lefort, Jean-Claude Souberbielle, Emmanuelle Dubosclard, Bernadette Lucas-Pouliquen, Jean-Marc Kuhn, Françoise Broux, Pascal Houillier, Lamisse Mansour-Hendili, Michel Polak, Sophie Ouzounian, Stéphanie Baron, Xavier Jeunemaitre, Christophe Simian, Sonia Beltran, Caroline Travers, Gérard Maruani, Xavier Debussche, Caroline Silve, Jean-Philippe Bertocchio, Catherine Cormier, Cyrielle Treard, Odile Camard, Celine Eid, Dominique Robier, Marie-Alice Macher, Sylvie Cloarec, Ivan Tack, Véronique Baudouin, Rosa Vargas-Poussou, and Soto Romuald Kiando

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adaptor Protein Complex sigma Subunits, Genotype, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adaptor Protein Complex 2, Parathyroid hormone, 030209 endocrinology & metabolism, Context (language use), Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Hyperparathyroidism, Familial hypocalciuric hypercalcemia, Genetic heterogeneity, business.industry, Biochemistry (medical), Middle Aged, Hyperparathyroidism, Primary, medicine.disease, GTP-Binding Protein alpha Subunits, Urinary calcium, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Parathyroid Hormone, Mutation, Calcium ion homeostasis, Hypercalcemia, Calcium, Female, business, Receptors, Calcium-Sensing, Primary hyperparathyroidism
Abstract

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively.This study aimed to compare the phenotypes of patients with genetically proven FHH types 1 or 3 or PHPT.This was a mutation analysis in a large cohort, a cross-sectional comparison of 52 patients with FHH type 1, 22 patients with FHH type 3, 60 with PHPT, and 24 normal adults.There were no interventions.Abnormalities of the CASR, GNA11, and AP2S1 genes, blood calcium, phosphate, and PTH concentrations, urinary calcium excretion were measured.In 133 families, we detected 101 mutations in the CASR gene, 68 of which were previously unknown, and in 19 families, the three recurrent AP2S1 mutations. No mutation was detected in the GNA11 gene. Patients with FHH type 3 had higher plasma calcium concentrations than patients with FHH type 1, despite having similar PTH concentrations and urinary calcium excretion. Renal tubular calcium reabsorption levels were higher in patients with FHH type 3 than in those with FHH type 1. Plasma calcium concentration was higher whereas PTH concentration and urinary calcium excretion were lower in FHH patients than in PHPT patients. In patients with FHH or PHPT, all data groups partially overlapped.In our population, AP2S1 mutations affect calcium homeostasis more severely than CASR mutations. Due to overlap, the risk of confusion between FHH and PHPT is high.

Published
2016

18. Is cherubism a systemic disease? Prospective study about 9 patients

Author

Ariane Berdal, Aline Joly, Arnaud Picard, Gérard Maruani, Valerie Cormier Daire, Brigitte Fauroux, and Amélie E. Coudert

Subjects
Systemic disease, medicine.medical_specialty, business.industry, Medicine, General Medicine, business, medicine.disease, Prospective cohort study, Dermatology, Cherubism
Published
2017

19. Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement

Author

Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, Mickael Rousière, Christian Roux, Vered Abitbol, Cédric Annweiler, Maurice Audran, Justine Bacchetta, Pierre Bataille, Olivier Beauchet, Rémi Bardet, Alexandra Benachi, Francis Berenbaum, Hubert Blain, Françoise Borson-Chazot, Véronique Breuil, Karine Briot, Philippe Brunet, Jean-Claude Carel, Philippe Caron, Olivier Chabre, Philippe Chanson, Roland Chapurlat, Pierre Cochat, Régis Coutant, Sophie Christin-Maitre, Martine Cohen-Solal, Christian Combe, Catherine Cormier, Marie Courbebaisse, Grégory Debrus, Brigitte Delemer, Georges Deschenes, Marc Duquenne, Patrice Fardellone, Denis Fouque, Gérard Friedlander, Jean-Bernard Gauvain, Lionel Groussin, Pascal Guggenbuhl, Pascal Houillier, Thierry Hannedouche, William Jacot, Rose-Marie Javier, Guillaume Jean, Claude Jeandel, Dominique Joly, Peter Kamenicky, Bertrand Knebelmann, Marie-Hélène Lafage-Proust, Yves LeBouc, Erick Legrand, Florence Levy-Weil, Agnès Linglart, Laurent Machet, Emmanuel Maheu, Eric Mallet, Christian Marcelli, Pierre Marès, Christophe Mariat, Gérard Maruani, Yves Maugars, France Montagnon, Bruno Moulin, Philippe Orcel, Henri Partouche, Virginie Personne, Charles Pierrot-Deseilligny, Michel Polak, Claire Pouteil-Noble, Dominique Prié, Agathe Raynaud-Simon, Yves Rolland, Jean-Louis Sadoul, Bernard Salle, Corinne Sault, Anne-Marie Schott, Isabelle Sermet-Gaudelus, Martin Soubrier, Ivan Tack, Éric Thervet, Isabelle Tostivint, Philippe Touraine, Florence Tremollières, Pablo Urena-Torres, Jean-Paul Viard, Jean-Louis Wemeau, Georges Weryha, Norbert Winer, Jacques Young, Thierry Thomas, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional d'Orléans (CHRO), Service de rhumatologie[Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Service de médecine interne et gérontologie clinique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier Boulogne-sur-mer, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de gynécologie-obstétrique, médecine de la reproduction [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Euromov (EuroMov), Université de Montpellier (UM), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Biologie du Cancer et de l'Infection (BCI ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Endocrinologie pédiatrique[CHU Angers], Physiopathologie des maladies génétiques d'expression pédiatrique, Os et articulations, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fibrose hépatique et cancer du foie, Université Bordeaux Segalen - Bordeaux 2-IFR66-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Néphrologie-transplantation-dialyse [Bordeaux], CHU Bordeaux [Bordeaux], Centre de recherche Croissance et signalisation (UMR_S 845), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Nutrition [Cergy] (N - cabinet libéral ), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Robert Debré, Centre Hospitalier Le Mans (CH Le Mans), Mécanismes physiologiques et conséquences des calcifications cardiovasculaires: rôle des remodelages cardiovasculaires et osseux, Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de rhumatologie [Rennes] = Rheumatology [Rennes], CHU Pontchaillou [Rennes], Service de Physiologie [Georges-Pompidou], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), CHU Strasbourg, Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de Rein Artificiel [Tassin la demi-lune] (CRA), Université Montpellier 1 (UM1), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Tissu Osseux et Contraintes Mecaniques (LBTO), Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Victor Dupouy, Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique (U986), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Service de Rhumatologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de Rhumatologie, Hôtel-Dieu, Cabinet de Rhumatologie [Saint-Etienne] (CdR), Hôpital Lariboisière-Fernand-Widal [APHP], Département de Médecine Générale, Université Paris Cité (UPCité), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Hôpital Edouard Herriot [CHU - HCL], CIC Hôpital Bichat, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, Gérontopôle, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service d'Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), Académie nationale de médecine, Eurofins Biomnis, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC), Service Obstétrique [CHU Toulouse], Pôle Femme-Mère-Couple [CHU Toulouse], Clinique du Landy [Saint-Ouen] (CL), Hôpital Hôtel-Dieu [Paris], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Gynécologie Obstétrique (NANTES - Gynéco Obstétrique), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut Gustave Roussy (IGR), Service d'endocrinologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, and Jonchère, Laurent

Subjects
medicine.medical_specialty, Malabsorption, [SDV]Life Sciences [q-bio], MathematicsofComputing_GENERAL, [SDV.CAN]Life Sciences [q-bio]/Cancer, Phosphorus metabolism disorder, GeneralLiterature_MISCELLANEOUS, Phosphorus metabolism, InformationSystems_GENERAL, [SDV.CAN] Life Sciences [q-bio]/Cancer, Malabsorption Syndromes, Calcium Metabolism Disorders, Internal medicine, medicine, Serum vitamin D measurement, Vitamin D and neurology, Humans, Renal Insufficiency, Chronic, Renal Insufficiency, Chronic, Vitamin D, ComputingMilieux_MISCELLANEOUS, MESH: Bone Diseases / blood, Calcium Metabolism Disorders / blood, Malabsorption Syndromes / blood, Phosphorus Metabolism Disorders / blood, Renal Insufficiency, Chronic / blood, Vitamin D / blood, business.industry, Phosphorus Metabolism Disorders, General Medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Endocrinology, Malabsorption syndromes, Bone Diseases, business, Kidney disease
Abstract

La mesure de la concentration serique de 25-hydroxy vitamines D (25OHD) permet d’evaluer le statut vitaminique D d’un individu. Ceci ne signifie pas qu’il faille doser ce parametre biologique chez tous les patients. Le nombre de prescriptions de dosages de 25OHD a pourtant decuple en France entre 2005 et 2013 generant un cout important de remboursement pour la Caisse nationale de l’assurance-maladie des travailleurs salaries (CNAMTS) ce qui l’a conduit, logiquement, a la saisine [...]

Published
2014

20. Rapport de la HAS sur les dosages de vitamine D : ne passons pas d’une situation extrême à une autre situation tout aussi extrême

Author

Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, Mickael Rousière, Christian Roux, Vered Abitbol, Maurice Audran, Justine Bachetta, Olivier Beauchet, Hubert Blain, Véronique Breuil, Karine Briot, Philippe Brunet, Philippe Chanson, Catherine Cormier, Marie Courbebaisse, Patrice Fardellone, Denis Fouque, Gérard Friedlander, Jean-Bernard Gauvain, Lionel Groussin, Pascal Houillier, William Jacot, Guillaume Jean, Peter Kamenicky, Marie-Hélène Lafage-Proust, Erick Legrand, Florence Levy-Weil, Agnès Linglart, Eric Mallet, Christian Marcelli, Gérard Maruani, France Montagnon, Virginie Personne, Dominique Prié, Agathe Raynaud-Simon, Yves Rolland, Bernard Salle, Corinne Sault, Anne-Marie Schott, Eric Thervet, Pablo Urena-Torres, Jean-Paul Viard, Georges Weryha, Charles Pierrot-Deseilligny, Jacques Young, and Thierry Thomas

Subjects
business.industry, Medicine, General Medicine, business, Humanities
Published
2014

21. French law: what about a reasoned reimbursement of serum vitamin D assays?

Author

Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, Mickael Rousière, Christian Roux, Vered Abitbol, Cédric Annweiler, Maurice Audran, Justine Bacchetta, Pierre Bataille, Olivier Beauchet, Rémi Bardet, Alexandra Benachi, Francis Berenbaum, Hubert Blain, Françoise Borson-Chazot, Véronique Breuil, Karine Briot, Philippe Brunet, Jean-Claude Carel, Philippe Caron, Olivier Chabre, Philippe Chanson, Roland Chapurlat, Pierre Cochat, Régis Coutant, Sophie Christin-Maitre, Martine Cohen-Solal, Christian Combe, Catherine Cormier, Marie Courbebaisse, Grégory Debrus, Brigitte Delemer, Georges Deschenes, Marc Duquenne, Guillaume Duval, Patrice Fardellone, Denis Fouque, Gérard Friedlander, Jean-Bernard Gauvain, Lionel Groussin, Pascal Guggenbuhl, Pascal Houillier, Thierry Hannedouche, William Jacot, Rose-Marie Javier, Guillaume Jean, Claude Jeandel, Dominique Joly, Peter Kamenicky, Bertrand Knebelmann, Marie-Hélène Lafage-Proust, Yves LeBouc, Erick Legrand, Florence Levy-Weil, Agnès Linglart, Laurent Machet, Emmanuel Maheu, Eric Mallet, Christian Marcelli, Pierre Marès, Christophe Mariat, Gérard Maruani, Yves Maugars, France Montagnon, Bruno Moulin, Philippe Orcel, Henri Partouche, Virginie Personne, Charles Pierrot-Deseilligny, Michel Polak, Claire Pouteil-Noble, Dominique Prié, Agathe Raynaud-Simon, Yves Rolland, Jean-Louis Sadoul, Bernard Salle, Corinne Sault, Anne-Marie Schott, Isabelle Sermet-Gaudelus, Martin Soubrier, Ivan Tack, Eric Thervet, Isabelle Tostivint, Philippe Touraine, Florence Tremollières, Pablo Urena-Torres, Jean-Paul Viard, Jean-Louis Wemeau, Georges Weryha, Norbert Winer, Jacques Young, Thierry Thomas, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Informatique de Nantes Atlantique (LINA), Mines Nantes (Mines Nantes)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie[Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'aérologie (LAERO), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Laboratoire des Matériels Électriques (EDF R&D LME), EDF R&D (EDF R&D), EDF (EDF)-EDF (EDF), Centre d'Analyse et d'Intervention Sociologiques (CADIS), École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), Département de Médecine Interne et Gérontologie clinique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de gynécologie-obstétrique, médecine de la reproduction [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Geriatrics - Efficiency and Deficiency Laboratory, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Vascular research center of Marseille (VRCM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Trigone-CIREL, Centre Interuniversitaire de Recherche en Education de Lille - ULR 4354 (CIREL), Université de Lille-Université de Lille, Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Rhumatologie [CHU Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité Expérimentale Recherches Intégrées - Gotheron (UERI), Institut National de la Recherche Agronomique (INRA), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de Néphrologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université de Bordeaux (UB), Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517 (MP3CV), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, Motricité - Plasticité, Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Centre de recherche sur le développement territorial (CRDT), Centre de recherche sur le développement territorial, CHU Pontchaillou [Rennes], Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Pascal (IP), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Information – Technologies – Analyse Environnementale – Procédés Agricoles (UMR ITAP), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Centre de Physique Théorique [Palaiseau] (CPHT), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Département de Médecine Générale, Université Paris Descartes - Paris 5 (UPD5), CHU Pitié-Salpêtrière [AP-HP], Service de néphrologie et transplantation, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche Croissance et signalisation (UMR_S 845), Service d'Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), CIC Cochin Pasteur (CIC 1417), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, CPMF2 - Flemish Cluster Predictive Microbiology in Foods - www.cpmf2.be BioTeC - Chemical and Biochemical Process Technology and Control Department of Chemical Engineering, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de ménopause, Centre de Diagnostic et de Thérapeutique, Hôpital de l’Hôtel-Dieu [Paris], Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'obstétrique-gynécologie [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Institut für Kernphysik der Universität zu Köln, Universität zu Köln = University of Cologne, Centre National de la Recherche Scientifique (CNRS)-Mines Nantes (Mines Nantes)-Université de Nantes (UN), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre des Pathologies gynécologiques Rares [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut E3M [CHU Pitié-Salpêtrière], Hôpital Paule de Viguier, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Universität zu Köln, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'aérologie (LA), Centre National de la Recherche Scientifique (CNRS)-Observatoire Midi-Pyrénées (OMP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Antoine Béclère, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Service de rhumatologie, inflammation-immunopathologie- biothérapie [CHU Saint-Antoine] (DHU i2B ), CHU Saint-Antoine [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Centre Interuniversitaire de Recherche en Education de Lille (CIREL) - EA 4354 (CIREL), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Hôpital Lariboisière, Unité de Recherches Intégrées - Gotheron (GOTH RI UERI), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Laboratoire de génie chimique [ancien site de Basso-Cambo] (LGC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Sigma CLERMONT (Sigma CLERMONT)-Centre National de la Recherche Scientifique (CNRS), Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied (CHU), CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut für Kernphysik - Universität zu Köln, Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Université Fédérale Toulouse Midi-Pyrénées-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Laboratoire d'Informatique de Nantes Atlantique ( LINA ), Centre National de la Recherche Scientifique ( CNRS ) -Mines Nantes ( Mines Nantes ) -Université de Nantes ( UN ), Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Laboratoire d'aérologie - LA ( LA ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire Midi-Pyrénées ( OMP ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire des Matériels Électriques ( EDF R&D LME ), EDF R&D ( EDF R&D ), EDF ( EDF ) -EDF ( EDF ), Centre d'Analyse et d'Intervention Sociologiques ( CADIS ), École des hautes études en sciences sociales ( EHESS ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Angers, Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Antoine Béclère, Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de rhumatologie, inflammation-immunopathologie- biothérapie [CHU Saint-Antoine] ( DHU i2B ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Saint-Antoine [APHP], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Groupement Hospitalier Lyon-Est ( GHE ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ) -Centre de médecine nucléaire, CHU Nice-Hôpital l'Archet, Vascular research center of Marseille ( VRCM ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Interuniversitaire de Recherche en Education de Lille (CIREL) - EA 4354 ( CIREL ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques ( BIOSCAR ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Unité de Recherches Intégrées - Gotheron ( GOTH RI UERI ), Institut National de la Recherche Agronomique ( INRA ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Laboratoire de génie chimique ( LGC ), Institut National Polytechnique [Toulouse] ( INP ) -Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique ( CNRS ), Université de Bordeaux ( UB ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Necker Enfants-Malades (INEM) ( INEM - UM 111 (UMR 8253 / U1151) ), Centre de recherche sur le développement territorial ( CRDT ), Institut Pascal ( IP ), Université Blaise Pascal - Clermont-Ferrand 2 ( UBP ) -Sigma CLERMONT ( Sigma CLERMONT ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Nantes ( UN ) -Hôtel-Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Information – Technologies – Analyse Environnementale – Procédés Agricoles ( UMR ITAP ), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture ( IRSTEA ) -Institut national d’études supérieures agronomiques de Montpellier ( Montpellier SupAgro ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière, Centre de Physique Théorique [Palaiseau] ( CPHT ), École polytechnique ( X ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Université de Lyon-Université de Lyon-Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Centre de recherche Croissance et signalisation ( UMR_S 845 ), Service d'Endocrinologie ( NICE - Endocrino ), CHU Nice, CIC Cochin Pasteur ( CIC 1417 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 ( UPD5 ) -Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Gabriel Montpied ( CHU ), Katholieke Universiteit Leuven ( KU Leuven ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Assistance publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes - Faculté de Médecine ( UPD5 Médecine ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), and CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, recommendation, Pediatrics, medicine.medical_specialty, Malabsorption, Legislation, Medical, [SDV]Life Sciences [q-bio], Osteoporosis, 030209 endocrinology & metabolism, Rickets, vitamin D, osteomalacia, vitamin D deficiency, 03 medical and health sciences, 0302 clinical medicine, rickets, medicine, Vitamin D and neurology, Humans, 030212 general & internal medicine, Biological Psychiatry, Reimbursement, Aged, Aged, 80 and over, Osteomalacia, Hematologic Tests, [ SDV ] Life Sciences [q-bio], business.industry, Hydroxycholecalciferols, assay, medicine.disease, Obesity, reimbursement, osteoporosis, 3. Good health, Surgery, clinical practice, Neuropsychology and Physiological Psychology, Insurance, Health, Reimbursement, Female, Neurology (clinical), France, Geriatrics and Gerontology, business, calcium phosphorus evaluation, chronic kidney disease
Abstract

International audience; The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health (Haute autorité de santé, or HAS) limited the indications for serum 25OHD measurements to rickets/osteomalacia, older adults with recurrent falls, monitoring of kidney transplant in adults, and surgical treatment of obesity in adults. Our aim here was to note that other indications for serum 25OHD measurements are supported by previous literature and by a number of national and international recommendations, in particular the following: any situation of bone fragility, any chronic renal failure

Published
2016

22. Épi-Hypo : état des lieux de l’hypoparathyroïdie en France

Author

Justine Bacchetta, I. Epi-Hypo, Agnès Linglart, Gérard Maruani, Lionel Groussin, Pascal Houillier, Peter Kamenicky, O. Tabarin, J.P. Riveline, Jean-Philippe Bertocchio, Caroline Silve, T. Brue, L. Crinière, Jean-Philippe Haymann, and Marie-Christine Vantyghem

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

Introduction L’hypoparathyroidie est une secretion insuffisante d’hormone parathyroidienne entrainant une hypocalcemie. Les causes sont chirurgicales, genetiques, auto-immunes, infiltratives, voire « idiopathique ». Les complications peuvent etre fonctionnelles (neuro/musculaires) et/ou par des calcifications des tissus. Les diagnostics et prises en charge impliquent differentes specialites, et il n’existe pas de donnees nationales francaises. Notre objectif est de faire un etat des lieux de l’hypoparathyroidie chronique en France. Methodes Une plateforme de saisie en ligne a permis de collecter anonymement les donnees cliniques et biologiques des patients au diagnostic et au cours du suivi. La plupart des professionnels impliques a ete contacte depuis septembre 2016 via le centre de reference des maladies rares du calcium et du phosphate (OSCAR) et la SFE. Resultats Au 31 mars 2018, 745 patients etaient inclus (femmes : 71 % ; mineurs : 12 %). Le delai entre le premier symptome et le diagnostic etait de 0 a 77 ans. Les causes au moment de l’inclusion etaient chirurgicale (71 %), genetique (9 %), auto-immune (3 %), radiotherapie (1 %) ou non identifiee (16 %). Au diagnostic, la calcemie etait mesuree a 1,80 ± 0,30 mm ; 15 % des patients avaient une insuffisance renale definie par un debit de filtration glomerulaire estime Discussion Epi-Hypo est la premiere etude nationale sur l’hypoparathyroidie. Elle a probablement un biais de recrutement (centres experts) et va etre completee pour refleter la diversite des situations, preciser la prevalence des complications et identifier des pistes d’amelioration dans la prise en charge. Cependant, Epi-Hypo confirme l’importante prevalence des complications renales de l’hypoparathyroidie.

Published
2018

23. Estimation du débit de filtration glomérulaire : des insuffisances rénales méconnues au cours de la myosite à inclusions

Author

Stéphanie Baron, Jean-Philippe Bertocchio, Olivier Benveniste, Gérard Maruani, O. Mangin, Y. Allenbach, and Pascal Houillier

Subjects
Gastroenterology, Internal Medicine
Abstract

Introduction La creatinine est un metabolite de la creatine, un derive d’acide amine d’origine musculaire. Les principales formules d’estimation du debit de filtration glomerulaire (DFG) utilisent la valeur de creatininemie et dependent donc de la masse musculaire. La myosite a inclusions est une myopathie acquise responsable d’une amyotrophie. Elle touche exclusivement les sujets âges, une population ou l’incidence des nephropathies est elevee. Notre objectif est de tester si l’estimation du DFG grâce a la creatininemie mesestime le DFG chez les patients atteints de myosites a inclusions. Patients et methodes Chez 20 patients suivis dans le service de medecine interne de l’hopital Pitie-Salpetriere, Paris, le DFG a ete simultanement mesure par la clairance renale du 51Cr-EDTA (DFGm) et estime (DFGe) par les formules MDRD, CKD-EPI creatinine et CKD-EPI cystatine C. La creatininemie a ete mesuree par technique enzymatique (CrE) et les urines des 24 heures ont ete recueillies la veille de l’examen. La composition corporelle (masse maigre appendiculaire non osseuse) a ete mesuree par absorptiometrie biphotonique a rayons X (DXA), exprimee en Z-score pour chaque patient. Resultats Huit hommes et 12 femmes âges de 65 ± 9 ans ont ete inclus. Leur masse maigre appendiculaire moyenne se situait dans les valeurs basses de la normale −1,85 [−2,50 ; −1,18] DS. La valeur de CrE etait situee dans les valeurs basses 43,5 μM [35,3–56,8]. Le DFGm etait 78 ± 18 mL/min/1,73 m2, 8 patients (40 %) avaient une maladie renale chronique selon les criteres KDIGO 2012 dont 4 avec un DFG Discussion Chez les patients etudies ayant une masse musculaire dans les valeurs basses de la normale, l’estimation du DFG utilisant la creatininemie ou la cystatine C est biaisee, en particulier avec la formule du MDRD. Ce biais de mesure empeche le diagnostic et le classement de la maladie renale chronique chez ces patients. L’utilisation des formules d’estimation du DFG dans la myosite a inclusions peut entrainer un retard dans la prise en charge de la maladie renale chronique mais egalement des surdosages pour les medicaments a elimination renale. Dans notre population, en utilisant un seuil de DFG estime par le CKD-EPI creatinine de 100 mL/min/1,73 m2, la sensibilite pour depister une maladie renale chronique stade ≥ 3 est de 100 %, la specificite de 87,5 % (Chi2 = 11,67). De maniere etonnante, le biais entre les DFG estimes et mesures n’etaient pas statistiquement correles avec la masse maigre appendiculaire exprimee en Z-score. Cela s’explique probablement par la faible taille de l’echantillon, mais peut etre egalement par la qualite du muscle qui n’est pas prise en compte par cette mesure contrairement a la mesure de la masse musculaire par IRM (resultats en cours d’analyse). Conclusion Au cours de la myosite a inclusions, le DFG est largement surestime par les formules habituelles malgre une masse musculaire moderement inferieure aux valeurs normales. Les formules d’estimation du DFG ne permettent pas de depister les insuffisances renales chroniques de facon satisfaisante dans cette population. Nous proposons qu’une mesure du DFG soit realisee chez les patients atteints de myosite a inclusion en cas de DFG estime par le CKD-EPI creatinine

Published
2018

24. Hyperparathyroïdie primitive

Author

Marie Courbebaisse, Pascal Houillier, Stéphanie Baron, Gérard Maruani, L. Nicolet, S. Renaud, and N Cornière

Subjects
Radical treatment, medicine.medical_specialty, Endocrine disease, endocrine system diseases, business.industry, Gastroenterology, Osteitis fibrosa cystica, Parathyroid hormone, medicine.disease, Pathophysiology, Surgery, Osteopathy, Internal Medicine, medicine, business, Primary hyperparathyroidism
Abstract

For the past 40 years, primary hyperparathyroidism has been recognized as a common endocrine disease which is, most often, “non-symptomatic”, without the occurrence of nephrolithiasis or osteitis fibrosa cystica. Our knowledge in the pathophysiology has increased largely and diagnosis of primary hyperparathyroidism is usually easy. The only radical treatment is surgery and the surgical indications have been codified by several consensus conferences. For patients who do not undergo surgery, prolonged medical monitoring is needed.

Published
2013

25. Vitamine D : métabolisme et évaluation des réserves

Author

Jean-Claude Souberbielle, Gérard Maruani, and Marie Courbebaisse

Subjects
Vitamin, medicine.medical_specialty, Kidney, Calcitriol, business.industry, chemistry.chemical_element, General Medicine, Calcium, medicine.disease, Calcitriol receptor, vitamin D deficiency, Phosphorus metabolism, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Internal medicine, medicine, Vitamin D and neurology, business, medicine.drug
Abstract

Vitamin D is not a vitamin stricto sensu as its main source does not come from diet. Vitamin D should rather be considered as a prohormone. To become fully active, vitamin D must be hydroxylated into 25(OH)D in the liver and then into 1,25(OH)2D (also called calcitriol) in the kidney, but also in many other tissues. The main classical effects of vitamin D concern bone and calcium/phosphorus metabolism. Many non-classical effects of vitamin D are suggested by the quasi-ubiquitous presence of the vitamin D receptor and by myriads of studies showing an association between vitamin D deficiency/insufficiency and an increased incidence or a poor prognostic of many diseases. The 25(OH)D serum concentration is the biological index that defines vitamin D status. There is currently no absolute consensus on the definition of vitamin D deficiency. Many experts consider that a 25(OH)D level less than 50 nmol/L corresponds to vitamin D deficiency whereas a concentration between 50 and 75 nmol/L corresponds to vitamin D insufficiency. These definitions are mostly based on the musculoskeletal effects of vitamin D.

Published
2013

26. Signification of distal urinary acidification defects in hypocitraturic patients

Author

Gérard Maruani, Julie Dubourg, Stéphanie Baron, Nelly Lepottier, Jérôme Nevoux, Adam Ogna, Alejandro García-Castaño, Jean-Philippe Bertocchio, Cyrielle Treard, Margarida Mendes, Pascal Houillier, Rosa Vargas-Poussou, Marie Courbebaisse, Anne Blanchard, Caroline Prot-Bertoye, and Valentina Forni Ogna

Subjects
Male, Physiology, 030232 urology & nephrology, lcsh:Medicine, Urine, 030204 cardiovascular system & hematology, Kidney, Pathology and Laboratory Medicine, 0302 clinical medicine, Potassium Citrate, Medicine and Health Sciences, lcsh:Science, Acidosis, Multidisciplinary, Genomics, Hydrogen-Ion Concentration, Middle Aged, Urinary calcium, Body Fluids, Chemistry, Physical Sciences, Female, Nephrocalcinosis, medicine.symptom, Anatomy, Hypocitraturia, Research Article, Glomerular Filtration Rate, Adult, medicine.medical_specialty, Urinary system, Immunology, Urology, Excretion, Autoimmune Diseases, 03 medical and health sciences, Young Adult, Signs and Symptoms, Genomic Medicine, Diagnostic Medicine, medicine, Genetics, Humans, Genetic Testing, Retrospective Studies, Clinical Genetics, Renal Physiology, business.industry, lcsh:R, Chemical Compounds, Biology and Life Sciences, Metabolic acidosis, Human Genetics, medicine.disease, Bicarbonates, Mutation, lcsh:Q, Clinical Immunology, Clinical Medicine, business, Physiological Processes
Abstract

Background and objectives Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. Materials and methods This retrospective observational study included 67 patients (32 men), aged 40.7±15.1 years with hypocitraturia (

Published
2016

27. Age-independent association between arterial and bone remodeling in mild-to-moderate chronic kidney disease

Author

Stéphane Laurent, Cédric Collin, Gérard Maruani, Marc Froissart, Pierre Boutouyrie, Pascal Houillier, Marie Briet, Cédric Gauci, and Erwan Bozec

Subjects
Male, Aging, Mean arterial pressure, medicine.medical_specialty, Bone disease, Renal function, Severity of Illness Index, Bone remodeling, Bone Density, medicine.artery, Internal medicine, medicine, Humans, Common carotid artery, Aged, Bone mineral, Transplantation, Lumbar Vertebrae, business.industry, Middle Aged, medicine.disease, Elasticity, Carotid Arteries, Cross-Sectional Studies, Endocrinology, Nephrology, Chronic Disease, Arterial stiffness, Cardiology, Regression Analysis, Female, Hip Joint, Kidney Diseases, Bone Remodeling, business, Glomerular Filtration Rate, Kidney disease
Abstract

BACKGROUND Damages to large arteries are related to bone disease in end-stage renal disease and contribute to cardiovascular mortality. An outward remodeling and stiffening of carotid artery already exist at an earlier stage of chronic kidney disease (CKD). We made the hypothesis that bone disease could be associated with the carotid outward remodeling in parallel with the decline of renal function in this population. METHODS One hundred and seven patients (60.4 +/- 14.6 years) with CKD (mean glomerular filtration rate = 34 +/- 17 mL/min/1.73 m(2)) were included in this cross-sectional study. Common carotid artery diameter, intima-media thickness and carotid stiffness were determined with an echotracking system. Bone evaluation was performed by bone densitometry and the measurement of a bone-remodeling marker, bone-specific alkaline phosphatase (BSALP). RESULTS After adjustment for age, sex, mean blood pressure, carotid pulse pressure and glomerular filtration rate, bone mineral densities measured at the radius, hip and lumbar spine were significantly and negatively correlated with carotid internal diameter (P = 0.0001, P = 0.0003, P = 0.01, respectively). This association exists only in patients with glomerular filtration rate < or =38 mL/min/ 1.73 m(2). BSALP was independently and positively correlated with carotid internal diameter and explained 13% of the variance. CONCLUSIONS Bone mineral density and serum marker of bone remodeling are independently correlated with arterial remodeling in CKD patients suggesting a crosstalk between kidney, arterial wall and bone.

Published
2009

28. Actualité sur les effets de la vitamine D et l’évaluation du statut vitaminique D

Author

Marie Courbebaisse, Gérard Friedlander, Gérard Maruani, Dominique Prié, Catherine Cormier, Pascal Houillier, Jean-Claude Souberbielle, and Etienne Cavalier

Subjects
Medical Laboratory Technology, Biochemistry (medical), Analytical Chemistry
Abstract

Resume Les connaissances sur la vitamine D ont beaucoup progresse ces dernieres annees. La vitamine D ne peut plus etre consideree comme uniquement necessaire a la prevention du rachitisme/osteomalacie. Son role dans la prevention des fractures osteoporotiques peripheriques du sujet âge est maintenant bien demontre (en association avec du calcium) et de tres nombreuses donnees epidemiologiques et experimentales sont en faveur d’un role dans la prevention de nombreuses affections (certains cancers et maladies auto-immunes, evenements cardio-vasculaires et hypertension, sarcopenie du sujet âge….). Deja, quelques etudes d’intervention confirment certains de ces effets. L’evaluation du statut vitaminique D peut etre aisement realisee par le dosage de la 25OHD serique. Toutefois, la plupart des revues recentes sur le sujet suggerent que les valeurs de reference de la 25OHD obtenues dans des populations apparemment en bonne sante sont beaucoup trop basses et que la concentration de 25OHD au-dessous de laquelle il existe une insuffisance en vitamine D se situe entre 50 et 100 nmol/L (20 et 40 ng/mL) avec une franche tendance a cibler des valeurs > 75 nmol/L (30 ng/mL). Les supplementations habituellement recommandees sont insuffisantes pour atteindre ces concentrations.

Published
2009

29. Actualité sur les effets de la vitamine D et l’évaluation du statut vitaminique D

Author

Gérard Maruani, Marie Courbebaisse, Jean-Claude Souberbielle, Catherine Cormier, Pascal Houillier, Dominique Prié, Gérard Friedlander, and Etienne Cavalier

Subjects
Gynecology, Osteomalacia, medicine.medical_specialty, education.field_of_study, business.industry, Endocrinology, Diabetes and Metabolism, Osteoporosis, Population, Parathyroid hormone, General Medicine, medicine.disease, Micronutrient, Endocrinology, Internal medicine, Reference values, Sarcopenia, medicine, Vitamin D and neurology, business, education
Abstract

Knowledge about vitamin D has greatly improved during the last few years. Vitamin D cannot any more be considered as exclusively necessary to prevent ricket/osteomalacia. Its role in the prevention of some osteoporotic fractures in the elderly (in association with calcium nutrition) is now well demonstrated and many epidemiologic and laboratory data argue for a role in the prevention of several diseases or anomalies (cancer, auto-immune diseases, cardiovascular events, sarcopenia...). A few intervention studies confirming some of these effects also exist. Vitamin D status can easily be assessed by measuring serum 25 hydroxy vitamin D (25OHD) level. However, many experts have claimed that the population-based reference values for 25OHD are too low and that the cut-off value below which vitamin D insufficiency can be present is somewhere between 20 and 40 ng/mL with a clear tendency to target values above 30 ng/mL (75 nmol/L). The main consequences are that vitamin D insufficiency is highly frequent whereas the currently recommended supplementation doses are not sufficient.

Published
2008

31. Comment la calcémie est-elle maintenue stable ?

Author

Pascal Houillier, Michel Paillard, Laurence Nicolet-Barousse, and Gérard Maruani

Subjects
Rheumatology, Chemistry, Parathyroid hormone, chemistry.chemical_element, Calcium-sensing receptor, Calcium, Biological effect, Molecular biology
Abstract

Resume Le maintien de la calcemie a une valeur stable est necessaire a de nombreuses fonctions de l’organisme. Cette stabilite requiert la cooperation de 3 organes : l’os et le rein, les 2 organes effecteurs, responsables des flux de calcium entrant et sortant du liquide extracellulaire ; les glandes parathyroides synthetisant et secretant l’hormone parathyroidienne. Le maintien de la calcemie necessite une secretion adaptee d’hormone parathyroidienne qui, par son action sur l’os et le tubule renal, garde constante la quantite de calcium extracellulaire.

Published
2003

32. Pro-FHH : un bon outil pour distinguer l’hypercalcémie familiale bénigne de l’hyperparathyroïdie primitive

Author

Jean-Philippe Bertocchio, Jean-Claude Souberbielle, Caroline Silve, Muriel Tafflet, Stéphanie Baron, R. Koumakis, C. Bertoye, Rosa Vargas-Poussou, Marie Courbebaisse, Lars Rejnmark, Gérard Maruani, Pascal Houillier, and Catherine Cormier

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

L’hyperparathyroidie primitive (PHPT) est une maladie frequente, curable (chirurgie), compliquee d’atteintes renales et osseuses. L’hypercalcemie familiale benigne (FHH) est une maladie genetique rare, non curable dont la presentation biologique est proche de celle de la PHPT : une hypercalcemie associee a une concentration d’hormone parathyroidienne (PTH) inadaptee. La mesure de l’excretion fractionnelle de calcium (FE Ca ) est recommandee pour distinguer ces 2 affections. Methodes D’une premiere cohorte, 146 adultes (63 avec FHH genetiquement prouvee, 83 avec PHPT chirurgicalement prouvee) ont ete etudies. Tous avaient une hypercalcemie ([calcium ionise] a jeun ≥ 1,32 mM) et une PTH normale. Les donnees disponibles ont ete comparees en analyse multivariee afin de developper une equation de risque (Pro-FHH) pour distinguer les patients avec FHH de ceux avec PHPT. Apres une validation interne ( boot-strap ), une cohorte independante, incluant 38 adultes avec FHH et 55 avec PHPT, a permis de tester la validation externe. Resultats Les patients avec FHH et ceux avec PHPT avaient des valeurs de calcemie, PTH, osteocalcine et FE Ca differentes. Pro-FHH a ete developpee grâce a ces 4 valeurs. L’aire sous la courbe ROC etait plus elevee pour Pro-FHH que pour FE Ca (0,969 vs. 0,873, p Ca classait de facon erronee 24 patients, pro-FHH les classait correctement. Ces resultats sont confirmes dans une cohorte independante. Discussion Pro-FHH a une meilleure capacite a discriminer la FHH et la PHPT que FE Ca. Une evaluation prospective de cet outil simple est necessaire.

Published
2017

33. Phase I safety and pharmacodynamic of inecalcitol, a novel VDR agonist with docetaxel in metastatic castration-resistant prostate cancer patients

Author

Reza Elaidi, Celine Lerest, Tristan Maurina, Eric Raymond, Sarah Mackenzie, Gael Deplanque, Jorge Allyon, Jean-Marc Ferrero, Stephanie Renaux, Gérard Maruani, Jacques Medioni, Pascal Houillier, Jean-Michel Rodier, Jean-Francois Dufour-Lamartinie, and Stéphane Oudard

Subjects
Male, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Urology, Phases of clinical research, Docetaxel, Prostate cancer, Prednisone, Internal medicine, Multicenter trial, Antineoplastic Combined Chemotherapy Protocols, medicine, Clinical endpoint, Humans, Neoplasm Metastasis, Aged, Cholecalciferol, Aged, 80 and over, Chemotherapy, business.industry, Middle Aged, Prostate-Specific Antigen, medicine.disease, Prostatic Neoplasms, Castration-Resistant, Endocrinology, Treatment Outcome, Oncology, Pharmacodynamics, Alkynes, Disease Progression, Receptors, Calcitriol, Taxoids, business, medicine.drug
Abstract

Purpose: We conducted a phase I multicenter trial in naïve metastatic castrate-resistant prostate cancer patients with escalating inecalcitol dosages, combined with docetaxel-based chemotherapy. Inecalcitol is a novel vitamin D receptor agonist with higher antiproliferative effects and a 100-fold lower hypercalcemic activity than calcitriol. Experimental Design: Safety and efficacy were evaluated in groups of three to six patients receiving inecalcitol during a 21-day cycle in combination with docetaxel (75 mg/m2 every 3 weeks) and oral prednisone (5 mg twice a day) up to six cycles. Primary endpoint was dose-limiting toxicity (DLT) defined as grade 3 hypercalcemia within the first cycle. Efficacy endpoint was ≥30% PSA decline within 3 months. Results: Eight dose levels (40–8,000 μg) were evaluated in 54 patients. DLT occurred in two of four patients receiving 8,000 μg/day after one and two weeks of inecalcitol. Calcemia normalized a few days after interruption of inecalcitol. Two other patients reached grade 2, and the dose level was reduced to 4,000 μg. After dose reduction, calcemia remained within normal range and grade 1 hypercalcemia. The maximum tolerated dose was 4,000 μg daily. Respectively, 85% and 76% of the patients had ≥30% PSA decline within 3 months and ≥50% PSA decline at any time during the study. Median time to PSA progression was 169 days. Conclusion: High antiproliferative daily inecalcitol dose has been safely used in combination with docetaxel and shows encouraging PSA response (≥30% PSA response: 85%; ≥50% PSA response: 76%). A randomized phase II study is planned. Clin Cancer Res; 20(17); 4471–7. ©2014 AACR.

Published
2014

34. [HAS report on vitamin D measurement: don't go from an extreme situation to another as extreme situation]

Author

Jean-Claude, Souberbielle, Claude Laurent, Benhamou, Bernard, Cortet, Mickael, Rousière, Christian, Roux, Vered, Abitbol, Maurice, Audran, Justine, Bachetta, Olivier, Beauchet, Hubert, Blain, Véronique, Breuil, Karine, Briot, Philippe, Brunet, Philippe, Chanson, Catherine, Cormier, Marie, Courbebaisse, Patrice, Fardellone, Denis, Fouque, Gérard, Friedlander, Jean-Bernard, Gauvain, Lionel, Groussin, Pascal, Houillier, William, Jacot, Guillaume, Jean, Peter, Kamenicky, Marie-Hélène, Lafage-Proust, Erick, Legrand, Florence, Levy-Weil, Agnès, Linglart, Eric, Mallet, Christian, Marcelli, Gérard, Maruani, France, Montagnon, Virginie, Personne, Dominique, Prié, Agathe, Raynaud-Simon, Yves, Rolland, Bernard, Salle, Corinne, Sault, Anne-Marie, Schott, Eric, Thervet, Pablo, Urena-Torres, Jean-Paul, Viard, Georges, Weryha, Charles, Pierrot-Deseilligny, Jacques, Young, Thierry, Thomas, CRLC Val d'Aurelle-Paul Lamarque, CRLCC Val d'Aurelle - Paul Lamarque, Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Saint-Etienne, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Victor Dupouy, CHU Rouen, Normandie Université (NU), Service de Rhumatologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], CHU Toulouse [Toulouse], Académie nationale de médecine, Biomnis Laboratory, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Néphrologie et Hémodialyse [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional d'Orléans (CHRO), Service de rhumatologie[Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de rhumatologie [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Euromov (EuroMov), Université de Montpellier (UM), Centre Hospitalier Universitaire de Nice (CHU Nice), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Amiens-Picardie, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Vitamin D/administration & dosage/*blood, Dose-Response Relationship, Dose-Response Relationship, Drug, Humans, [SDV.CAN]Life Sciences [q-bio]/Cancer, Vitamin D, Drug, Vitamin D Deficiency, Vitamin D Deficiency/*diagnosis
Published
2014

35. [Metabolism and main effects of vitamin D]

Author

Jean-Claude, Souberbielle, Gérard, Maruani, and Marie, Courbebaisse

Subjects
Diagnostic Techniques, Endocrine, Animals, Humans, Receptors, Calcitriol, Vitamin D, Vitamin D Deficiency, Models, Biological, Diet
Abstract

Vitamin D is not a vitamin stricto sensu as its main source does not come from diet. Vitamin D should rather be considered as a prohormone. To become fully active, vitamin D must be hydroxylated into 25(OH)D in the liver and then into 1,25(OH)2D (also called calcitriol) in the kidney, but also in many other tissues. The main classical effects of vitamin D concern bone and calcium/phosphorus metabolism. Many non-classical effects of vitamin D are suggested by the quasi-ubiquitous presence of the vitamin D receptor and by myriads of studies showing an association between vitamin D deficiency/insufficiency and an increased incidence or a poor prognostic of many diseases. The 25(OH)D serum concentration is the biological index that defines vitamin D status. There is currently no absolute consensus on the definition of vitamin D deficiency. Many experts consider that a 25(OH)D level less than 50 nmol/L corresponds to vitamin D deficiency whereas a concentration between 50 and 75 nmol/L corresponds to vitamin D insufficiency. These definitions are mostly based on the musculoskeletal effects of vitamin D.

Published
2013

36. Longitudinal Bone Loss Occurs at the Radius in CKD

Author

Pierre-Emmanuel Cailleaux, Agnes Ostertag, Marie Metzger, Bénédicte Stengel, Julie Boucquemont, Pascal Houillier, Martin Flamant, Pablo Ureña-Torres, Martine Cohen-Solal, Emmanuel Letavernier, Pierre Ronco, Hafedh Fessi, Eric Daugas, Caroline du Halgouet, Renaud de La Faille, Christian d’Auzac, Gerard Maruani, Marion Vallet, Cédric Gauci, Jean Philippe Haymann, Eric Thervet, Jean-Jacques Boffa, François Vrtovsnik, Marc Froissart, Laurence Nicolet-Barousse, Mélanie Roland, and Christian Jacquot

Subjects
bone mineral density, chronic kidney disease–mineral bone disorders, fracture, osteoporosis, parathyroid hormone, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Introduction: Chronic kidney disease (CKD) exposes to an increased incidence of fragility fractures. International guidelines recommend performing bone mineral density (BMD) if the results will impact treatment decisions. It remains unknown where bone loss occurs and what would preclude the longitudinal loss in patients with CKD. Here, we aimed to investigate factors influencing BMD and to analyze the longitudinal BMD changes. Methods: In the NephroTest cohort, we measured BMD at the femoral neck, total hip, lumbar spine, and proximal radius, together with circulating biomarkers and standardized measured glomerular filtration rate (mGFR) by 51Cr-EDTA in a subset of patients with CKD stage 1 to 5 followed during 4.3 ± 2.0 years. A linear mixed model explored the longitudinal bone loss and the relationship of associated factors with BMD changes. A total of 858 patients (mean age 58.9 ± 15.2 years) had at least 1 and 477 had at least 2 BMD measures. Results: At baseline, cross-sectional analysis showed a significantly lower BMD at femoral neck and total hip and a significant higher serum parathyroid hormone (PTH) along with CKD stages. Baseline age, gender, tobacco, low body mass index (BMI), and high PTH levels were significantly associated with low BMD. Longitudinal analysis during the mean 4.3 years revealed a significant bone loss at the radius only. BMD changes at the femoral neck were associated with BMI, but not CKD stages or basal PTH levels. Conclusions: CKD is associated with low BMD and high PTH in the cross-sectional analysis. Longitudinal bone loss occurred at the proximal radius after 4.3 years.

Published
2021
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37. Assessment of body cell mass at bedside in critically ill patients

Author

Magali Savalle, Christophe Faisy, Jean-Yves Fagon, Etienne Puymirat, Gérard Maruani, Florence Bellenfant, Pascal Houillier, and Florence Gillaizeau

Subjects
Adult, Male, medicine.medical_specialty, Physiology, Endocrinology, Diabetes and Metabolism, Critical Illness, Point-of-Care Systems, Nutritional Status, Absorptiometry, Photon, Physiology (medical), medicine, Electric Impedance, Health Status Indicators, Humans, Intensive care medicine, Wasting, Adiposity, Aged, Aged, 80 and over, Critically ill, business.industry, Body Weight, Lean tissue, Middle Aged, Adipose Tissue, Body cells, Critical illness, Body Composition, Regression Analysis, Female, medicine.symptom, business, Bioelectrical impedance analysis
Abstract

Critical illness affects body composition profoundly, especially body cell mass (BCM). BCM loss reflects lean tissue wasting and could be a nutritional marker in critically ill patients. However, BCM assessment with usual isotopic or tracer methods is impractical in intensive care units (ICUs). We aimed to modelize the BCM of critically ill patients using variables available at bedside. Fat-free mass (FFM), bone mineral (Mo), and extracellular water (ECW) of 49 critically ill patients were measured prospectively by dual-energy X-ray absorptiometry and multifrequency bioimpedance. BCM was estimated according to the four-compartment cellular level: BCM = FFM − (ECW/0.98) − (0.73 × Mo). Variables that might influence the BCM were assessed, and multivariable analysis using fractional polynomials was conducted to determine the relations between BCM and these data. Bootstrap resampling was then used to estimate the most stable model predicting BCM. BCM was 22.7 ± 5.4 kg. The most frequent model included height (cm), leg circumference (cm), weight shift (Δ) between ICU admission and body composition assessment (kg), and trunk length (cm) as a linear function: BCM (kg) = 0.266 × height + 0.287 × leg circumference + 0.305 × Δweight − 0.406 × trunk length − 13.52. The fraction of variance explained by this model (adjusted r2) was 46%. Including bioelectrical impedance analysis variables in the model did not improve BCM prediction. In summary, our results suggest that BCM can be estimated at bedside, with an error lower than ±20% in 90% subjects, on the basis of static (height, trunk length), less stable (leg circumference), and dynamic biometric variables (Δweight) for critically ill patients.

Published
2012

38. Large Artery Stiffening and Remodeling Are Independently Associated With All-Cause Mortality and Cardiovascular Events in Chronic Kidney Disease

Author

Philippe Guardiola, Marie Metzger, Marie Briet, Stéphane Laurent, Gérard Maruani, Pascal Houillier, Jean-Philippe Haymann, Marc Froissart, Bénédicte Stengel, Pierre Boutouyrie, Alexandre Karras, Erwan Bozec, Christian Jacquot, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), SNP, Transcriptome & Epigénomique [CHU Angers] (Plateforme STE), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), CIC AP-HP (hegp Ex-Broussais)/inserm, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM), and Univ Angers, Okina

Subjects
Adult, Carotid Artery Diseases, Male, medicine.medical_specialty, aortic stiffness, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Renal function, Blood Pressure, carotid artery common, 030204 cardiovascular system & hematology, Carotid Intima-Media Thickness, 03 medical and health sciences, 0302 clinical medicine, Vascular Stiffness, Internal medicine, Internal Medicine, medicine, Humans, Cumulative incidence, Renal Insufficiency, Renal Insufficiency, Chronic, Mortality, Prospective cohort study, Pulse wave velocity, Aged, business.industry, Middle Aged, medicine.disease, Prognosis, Remodeling, [SDV] Life Sciences [q-bio], Survival Rate, Cardiovascular Diseases, Relative risk, Arterial stiffness, Cardiology, Aortic stiffness, Female, business, Kidney disease, Glomerular Filtration Rate
Abstract

Chronic kidney disease, even at moderate stages, is characterized by a high incidence of cardiovascular events. Subclinical damage to large arteries, such as increased arterial stiffness and outward remodeling, is a classical hallmark of patients with chronic kidney disease. Whether large artery stiffness and remodeling influence the occurrence of cardiovascular events and the mortality of patients with chronic kidney disease (stages 2–5) is still debated. This prospective study included 439 patients with chronic kidney disease (mean age, 59.8±14.5 years) with a mean measured glomerular filtration rate of 37 mL/min per 1.73 m 2 . Baseline aortic stiffness was estimated through carotid-femoral pulse wave velocity measurements; carotid stiffness, diameter, and intima-media thickness were measured with a high-resolution echotracking system. For the overall group of patients, the 5-year estimated survival and cumulative incidence of cardiovascular events were 87% and 16%, respectively. In regression analyses adjusted on classical cardiovascular and renal risk factors, aortic stiffness remained significantly associated with all-cause mortality (for 1 SD, Cox model–derived relative risk [95% CI], 1.48 [1.09–2.02]) and with fatal and nonfatal cardiovascular events (for 1 SD, Fine and Gray competing risks model–derived relative risk [95% CI], 1.35 [1.05–1.75]). Net reclassification improvement index was significant (29.0% [2.3–42.0%]). Carotid internal diameter was also independently associated with all-cause mortality. This study shows that increased aortic stiffness and carotid internal diameter are independent predictors of mortality in patients with stages 2 to 5 chronic kidney disease and that aortic stiffness improves the prediction of the risk.

Published
2012

39. Pitfalls of measuring total blood calcium in patients with CKD

Author

Jean-Jacques Boffa, Pascal Houillier, Bruno Fouqueray, Martin Flamant, Bénédicte Stengel, Marc Froissart, Olivier Moranne, Cédric Gauci, Gérard Maruani, Renaud de la Faille, Jean-Claude Souberbielle, Christian Jacquot, Jean-Philippe Haymann, Jerome Rossert, and Pablo Ureña

Subjects
Nephrology, Adult, Male, medicine.medical_specialty, Adolescent, Serum albumin, Urology, Nephropathy, Predictive Value of Tests, Clinical Research, Internal medicine, Medicine, Humans, Hypoalbuminemia, Renal Insufficiency, Chronic, Serum Albumin, Aged, Calcium metabolism, Aged, 80 and over, Kidney, biology, business.industry, Albumin, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Endocrinology, biology.protein, Calcium, Female, business, Kidney disease
Abstract

Disorders of mineral and bone metabolism are prevalent in patients with chronic kidney disease (CKD). The recent National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI) guidelines recommend that blood calcium (Ca) be regularly measured in patients with stages 3 to 5 CKD. The Kidney Disease: Improving Global Outcomes (KDIGO) position states that the measurement of ionized Ca (iCa) is preferred and that if total Ca (tCa) concentration is used instead, then it should be adjusted in the setting of hypoalbuminemia. In 691 consecutive patients with stages 3 to 5 CKD, we compared the ability of noncorrected and albumin-corrected tCa concentration to identify low, normal, or high iCa concentration. The agreement between noncorrected or albumin-corrected tCa and iCa was only fair. The risk for underestimating ionized calcium was independently increased by a low total CO(2) concentration when either noncorrected or albumin-corrected Ca was used and by a low albumin concentration only when noncorrected tCa was used. The risk for overestimating iCa was increased by a low albumin concentration only when albumin-corrected Ca was used. In conclusion, albumin-corrected tCa does not predict iCa better than noncorrected tCa. Moreover, both noncorrected and albumin-corrected tCa concentrations poorly predict hypo- or hypercalcemia in patients with CKD.

Published
2008

40. [Primary hyperparathyroidism]

Author

Pascal, Houillier and Gérard, Maruani

Subjects
Humans, Hyperparathyroidism, Primary
Abstract

For thirty years, primary hyperparathyroidism is recognized as a frequent endocrine disease which is, most often, "non symptomatic" that is without nephrolithiasis or osteitis fibrosa cystica. Our knowledge in the pathophysiology has greatly grown and diagnosis of primary hyperparathyroidism is frequently easy. The only curative treatment is surgery and the indications have been codified by several consensus conferences.

Published
2007

41. What serum calcium can tell us and what it can't

Author

Pascal Houillier, Gérard Maruani, Marc Froissart, and Anne Blanchard

Subjects
Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Renal function, chemistry.chemical_element, Calcium, Kidney Function Tests, Sensitivity and Specificity, Severity of Illness Index, Text mining, Reference Values, Internal medicine, Calcium Metabolism Disorders, Severity of illness, Extracellular fluid, Medicine, Homeostasis, Humans, Calcium metabolism, Transplantation, business.industry, medicine.disease, Endocrinology, chemistry, Nephrology, Female, Hemodialysis, business, Biomarkers, Kidney disease
Published
2005

42. What keeps serum calcium levels stable?

Author

Laurence Nicolet-Barousse, Michel Paillard, Gérard Maruani, and Pascal Houillier

Subjects
medicine.medical_specialty, chemistry.chemical_element, Parathyroid hormone, Calcium, Kidney, Bone and Bones, Parathyroid Glands, Rheumatology, Internal medicine, medicine, Extracellular, Humans, Calcium Signaling, Receptor, Calcium metabolism, business.industry, Kidney metabolism, Water-Electrolyte Balance, medicine.anatomical_structure, Endocrinology, chemistry, Parathyroid Hormone, Calcium-sensing receptor, business, Receptors, Calcium-Sensing, hormones, hormone substitutes, and hormone antagonists
Abstract

Many body functions require that serum calcium levels remain stable over time. This stability is provided by cooperation among three organs: two effectors, the bone and the kidney, which control calcium movements into and out of the extracellular compartment, and the parathyroid glands, which produce and release parathyroid hormone (PTH). PTH acts on the bone and renal tubule. Provided the amount released is appropriate, this keeps extracellular calcium levels stable.

Published
2003

43. Normocalcemic primary hyperparathyroidism: evidence for a generalized target-tissue resistance to parathyroid hormone

Author

Michel Paillard, Gérard Maruani, Alexandre Hertig, and Pascal Houillier

Subjects
Adult, Male, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Parathyroid hormone, Kidney, Biochemistry, Bone remodeling, Phosphates, Endocrinology, Calcitriol, Internal medicine, medicine, Vitamin D and neurology, Humans, Calcium metabolism, Hyperparathyroidism, Chemistry, Biochemistry (medical), Kidney metabolism, Middle Aged, medicine.disease, medicine.anatomical_structure, Parathyroid Hormone, Creatinine, Calcium, Female, hormones, hormone substitutes, and hormone antagonists, Primary hyperparathyroidism
Abstract

Primary hyperparathyroidism (PHPT) is usually characterized by fasting hypercalcemia associated with inappropriately high PTH concentration. Nevertheless, cases of proven PHPT have been reported in normocalcemic patients. The purpose of the study was to investigate the mechanism(s) of persistent normocalcemia in PHPT. One hundred seventy-eight patients with PHPT were studied after exclusion of any evident cause of masked hypercalcemia. Patients were separated into normocalcemic (n = 34) and hypercalcemic (n = 144) subgroups on the basis of their fasting serum ionized calcium value. Patients with normocalcemic PHPT had, on average, a milder excess in PTH secretion assessed by a lower serum PTH concentration. Because of a clear overlap in PTH values between the two groups, normocalcemic and hypercalcemic patients were matched on the basis of serum PTH concentration, age, and sex. Patients with normocalcemic PHPT had lower fasting urine calcium excretion and renal tubular calcium reabsorption. In addition, normocalcemic patients differed from hypercalcemic patients by lower values of markers of bone turnover and plasma 1,25 dihydroxyvitamin D and higher values of renal phosphate threshold. In conclusion, a significant proportion of patients with PHPT are truly normocalcemic, and in addition to a milder increase in PTH secretion, the normocalcemic patients appear to display resistance to PTH action on bone and kidney.

Published
2003

44. Combining robust urine biomarkers to assess chronic kidney disease progressionResearch in context

Author

Frank Bienaimé, Mordi Muorah, Marie Metzger, Melanie Broeuilh, Pascal Houiller, Martin Flamant, Jean-Philippe Haymann, Jacky Vonderscher, Jacques Mizrahi, Gérard Friedlander, Bénédicte Stengel, Fabiola Terzi, François Vrtovsnik, Eric Daugas, Emmanuelle Vidal-Petiot, Christian Jacquot, Alexandre Karras, Stéphane Roueff, Eric Thervet, Pascal Houillier, Marie Courbebaisse, Dominique Eladari et Gérard Maruani, Pablo Urena-Torres, Jean-Jacques Boffa, Pierre Ronco, H. Fessi, Eric Rondeau, Emmanuel Letavernier, and Nahid Tabibzadeh

Subjects
Chronic kidney disease progression, Urinary biomarkers, EGF, TGF-α, CCL2, NGAL, Medicine, Medicine (General), R5-920
Abstract

Summary: Background: Urinary biomarkers may improve the prediction of chronic kidney disease (CKD) progression. Yet, data reporting the applicability of most commercial biomarker assays to the detection of their target analyte in urine together with an evaluation of their predictive performance are scarce. Methods: 30 commercial assays (ELISA) were tested for their ability to quantify the target analyte in urine using strict (FDA-approved) validation criteria. In an exploratory analysis, LASSO (Least Absolute Shrinkage and Selection Operator) logistic regression analysis was used to identify potentially complementary biomarkers predicting fast CKD progression, determined as the 51CrEDTA clearance-based measured glomerular filtration rate (mGFR) decline (>10% per year) in a subsample of 229 CKD patients (mean age, 61 years; 66% men; baseline mGFR, 38 mL/min) from the NephroTest prospective cohort. Findings: Among the 30 assays, directed against 24 candidate biomarkers, encompassing different pathophysiological mechanisms of CKD progression, 16 assays fulfilled the FDA-approved criteria. LASSO logistic regressions identified a combination of five biomarkers including CCL2, EGF, KIM1, NGAL, and TGF-α that improved the prediction of fast mGFR decline compared to the kidney failure risk equation variables alone: age, gender, mGFR, and albuminuria. Mean area under the curves (AUC) estimated from 100 re-samples was higher in the model with than without these biomarkers, 0.722 (95% confidence interval 0.652–0.795) vs. 0.682 (0.614–0.748), respectively. Fully-adjusted odds-ratios (95% confidence interval) for fast progression were 1.87 (1.22, 2.98), 1.86 (1.23, 2.89), 0.43 (0.25, 0.70), 1.10 (0.71, 1.83), 0.55 (0.33, 0.89), and 2.99 (1.89, 5.01) for albumin, CCL2, EGF, KIM1, NGAL, and TGF-α, respectively. Interpretation: This study provides a rigorous validation of multiple assays for relevant urinary biomarkers of CKD progression which combination may improve the prediction of CKD progression. Funding: This work was supported by Institut National de la Santé et de la Recherche Médicale, Université de Paris, Assistance Publique Hôpitaux de Paris, Agence Nationale de la Recherche, MSDAVENIR, Pharma Research and Early Development Roche Laboratories (Basel, Switzerland), and Institut Roche de Recherche et Médecine Translationnelle (Paris, France).

Published
2023
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