Search

Your search keyword '"Timsit, José"' showing total 18 results
Start Over Author "Timsit, José" Publication Year Range Last 10 years
18 results on '"Timsit, José"'

5. The Etiological Diagnosis of Diabetes: Still a Challenge for the Clinician.

Author

Dubois-Laforgue, Danièle and Timsit, José

Subjects
*DIAGNOSIS of diabetes, *TYPE 1 diabetes, *TYPE 2 diabetes, *NUCLEOTIDE sequencing, *ISLANDS of Langerhans
Abstract

The etiological diagnosis of diabetes conveys many practical consequences for the care of patients, and often of their families. However, a wide heterogeneity in the phenotypes of all diabetes subtypes, including Type 1 diabetes, Type 2 diabetes, and monogenic diabetes, has been reported and contributes to frequent misdiagnoses. The recently revised WHO classification of diabetes mellitus includes two new classes, namely "hybrid forms" and "unclassified diabetes", which also reflect the difficulties of this etiological diagnosis. During the last years, many studies aiming at identifying homogenous subgroups on refined phenotypes have been reported. Ultimately, such subtyping may improve the diagnosis, prognosis, and treatment of patients on a pathophysiological basis. Here, we discuss the concepts of typical vs. atypical diabetes in the context of autoimmune Type 1 diabetes, Type 2 diabetes, and its monogenic forms. We discuss the contributions of clinical markers, biological tests, particularly islet cell auto-antibodies, and genetics to improving accurate diagnoses. These data support a systematic evaluation of all newly diagnosed diabetes cases. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

7. Efficacy and safety of suspend-before-low insulin pump technology in hypoglycaemia-prone adults with type 1 diabetes (SMILE): an open-label randomised controlled trial

Author

Haddouche, Aini, Bellanne‐Chantelot, Christine, Rod, Anne, Fournier, Luc, Chiche, Laurence, Gautier, Jean‐Francois, Timsit, José, Laboureau, Sandrine, Chaillous, Lucy, Valero, Rene, Larger, Etienne, Jeandidier, Nathalie, Wilhelm, Jean‐Marie, Popelier, Marc, Guillausseau, Pierre‐Jean, Thivolet, Charles, Lecomte, Pierre, Benhamou, Pierre‐Yves, Reznik, Yves, Bosi, Emanuele, Choudhary, Pratik, De Valk, Harold, Lablanche, Sandrine, Castaneda, Javier, De Portu, Simona, Da Silva, Julien, Ré, Roseline, Vorrink-de Groot, Linda, Shin, John, Kaufman, Francine, Cohen, Ohad, Laurenzi, Andrea, Caretto, Amelia, Slatterly, David, Henderson-Wilson, Marcia, Weisnagel, S. John, Dubé, Marie-Christine, Julien, Valérie-Ève, Trevisan, Roberto, Lepore, Giuseppe, Bellante, Rosalia, Hramiak, Irene, Spaic, Tamara, Driscoll, Marsha, Borot, Sophie, Clergeot, Annie, Khiat, Lamia, Hammond, Peter, Ray, Sutapa, Dinning, Laura, Tonolo, Giancarlo, Manconi, Alberto, Ledda, Maura Serena, de Ranitz, Wendela, Silvius, Bianca, Wojtusciszyn, Anne, Farret, Anne, Vriesendorp, Titia, Immeker-de Jong, Folkje, van der Linden, Joke, Brink, Huguette, Alkemade, Marije, Schaepelynck-Belicar, Pauline, Galie, Sébastien, Tréglia, Clémence, Haddouche, Myriam, Hoogma, Roel, Leelarathna, Lalantha, Shaju, Angel, James, Linda, Institut National de l'Environnement Industriel et des Risques (INERIS), Service de Chirurgie digestive [Bordeaux], CHU Bordeaux [Bordeaux], Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôpital Laennec, Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Strasbourg, Pharmacologie Endocrinienne, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université de Liège, Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Dipartimento di Biologia Evoluzionistica 'Leo Pardi', Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), King's College Hospital (KCH), University Medical Center [Utrecht], Medtronic Bakken Research Center BV, Medtronic Diabetes, International Trading Sàrl , Tolochenaz, Switzerland, Human Computer Technology Laboratory (HCTLab), Universidad Autonoma de Madrid (UAM), Service de Diabétologie - Endocrinologie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Institute of Child Health, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Endocrinologie, Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud )-CHU Marseille, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), 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 Lariboisière, 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), Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF), Università degli Studi di Firenze [Firenze], Service de diabétologie - endocrinologie, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz, Service de diabétologie - endocrinologie [Besançon], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz-Université de Franche-Comté (UFC), Bosi, E, Choudhary, P, de Valk, H, Lablanche, S, Castaneda, J, de Portu, S, Da Silva, J, Re, R, Vorrink-de Groot, L, Shin, J, Kaufman, F, Cohen, O, Laurenzi, A, Caretto, A, Slatterly, D, Henderson-Wilson, M, Weisnagel, S, Dube, M, Julien, V, Trevisan, R, Lepore, G, Bellante, R, Hramiak, I, Spaic, T, Driscoll, M, Borot, S, Clergeot, A, Khiat, L, Hammond, P, Ray, S, Dinning, L, Tonolo, G, Manconi, A, Ledda, M, de Ranitz, W, Silvius, B, Wojtusciszyn, A, Farret, A, Vriesendorp, T, Immeker-de Jong, F, van der Linden, J, Brink, H, Alkemade, M, Schaepelynck-Belicar, P, Galie, S, Treglia, C, Benhamou, P, Haddouche, M, Hoogma, R, Leelarathna, L, Shaju, A, James, L, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Bosi, E., Choudhary, P., de Valk, H. W., Lablanche, S., Castaneda, J., de Portu, S., Da Silva, J., Re, R., Vorrink-de Groot, L., Shin, J., Kaufman, F. R., Cohen, O., Laurenzi, A., Caretto, A., Slatterly, D., Henderson-Wilson, M., Weisnagel, S. J., Dube, M. -C., Julien, V. -E., Trevisan, R., Lepore, G., Bellante, R., Hramiak, I., Spaic, T., Driscoll, M., Borot, S., Clergeot, A., Khiat, L., Hammond, P., Ray, S., Dinning, L., Tonolo, G., Manconi, A., Ledda, M. S., de Ranitz, W., Silvius, B., Wojtusciszyn, A., Farret, A., Vriesendorp, T., Immeker-de Jong, F., van der Linden, J., Brink, H. S., Alkemade, M., Schaepelynck-Belicar, P., Galie, S., Treglia, C., Benhamou, P. -Y., Haddouche, M., Hoogma, R., Leelarathna, L., Shaju, A., and James, L.

Subjects
Adult, Male, Insulin pump, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Population, glucose, hemoglobin A1c, insulin, antidiabetic agent, 030209 endocrinology & metabolism, Low insulin, law.invention, 03 medical and health sciences, Insulin Infusion Systems, 0302 clinical medicine, Endocrinology, Randomized controlled trial, law, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Insulin, 030212 general & internal medicine, education, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Type 1 diabetes, Continuous glucose monitoring, business.industry, Middle Aged, medicine.disease, Hypoglycemia, 3. Good health, Diabetes Mellitus, Type 1, Hypoglycaemia unawareness, Female, Open label, business
Abstract

Background: Hypoglycaemia unawareness and severe hypoglycaemia can increase fear of hypoglycaemia and the risk of subsequent hypoglycaemic events. We aimed to assess the safety and efficacy of insulin pump therapy with integrated continuous glucose monitoring (CGM) and a suspend-before-low feature (Medtronic MiniMed 640G with SmartGuard) in hypoglycaemia-prone adults with type 1 diabetes. Methods: SMILE was an open-label randomised controlled trial done in people aged 24–75 years with type 1 diabetes for 10 years or longer, HbA1c values of 5·8–10·0% (40–86 mmol/mol), and at high risk of hypoglycaemia (recent severe hypoglycaemia or hypoglycaemia unawareness defined by a Clarke or Gold score ≥4). Participants were enrolled from 16 centres (eg, clinics, hospitals, or university medical centres) in Canada, France, Italy, the Netherlands, and the UK. After baseline run-in phase (2 weeks), participants were randomly assigned to the MiniMed 640G pump (continuous subcutaneous insulin infusion) with self-monitoring of blood glucose (control group) or to the MiniMed 640G system with the suspend-before-low feature enabled (intervention group), for 6 months. The study statistician analysing the data was masked to group assignment until final database lock; because of the nature of the intervention, participants and treating clinicians could not be masked to group assignment. The primary outcome was the mean number of sensor hypoglycaemic events, defined as 55 mg/dL (3·1 mmol/L) or lower, and was analysed on an intention-to-treat basis in all randomly assigned participants. This trial is registered with ClinicalTrials.gov, number NCT02733991, and is completed. Findings: Between Dec 7, 2016, and March 27, 2018, 153 participants with a mean age 48·2 [12·4] years were randomly assigned: 77 to the control group (mean age 47·4 [12·5] years) and 76 to the intervention group (mean age 49·0 [12·2] years). After 6 months, the intervention group had significantly fewer hypoglycaemic events per participant per week (1·1 [SD 1·2] vs 4·1 [3·4] mean events, model-based treatment effect −2·9 [95% CI −3·5 to −2·3]; p

Published
2019

8. Additional file 1: of Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

Author

Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, and Bellanné-Chantelot, Christine

Abstract

List of investigators of the French Monogenic Diabetes Study Group of the Société Francophone du Diabète (29 ko). (DOCX 24 kb)

Published
2019
Full Text
View/download PDF

9. Additional file 2: of Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

Author

Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, and Bellanné-Chantelot, Christine

Abstract

Table S1. Cases with class 3/4/5 variants identified in two genes. Table S2. Loss-of-function variants identified in ABCC8 and KCNJ11. Table S3. List of novel pathogenic (Class 5) or likely pathogenic (Class 4) variants. Table S4. List of known class 4–5 variants identified in ABCC8, HNF1B, KCNJ11, and INS genes. Table S5. Main characteristics of the 15 patients with HNF1B-MODY. Table S6. Main characteristics at the onset of diabetes in patients with monogenic vs. non-monogenic diabetes. Table S7. List of variants of uncertain significance (class 3). Figure S1. Main characteristics at diagnosis of diabetes in patients with monogenic diabetes according to the involved gene. Figure S2. Main characteristics at diagnosis of diabetes in patients with (M+) and without (M−) monogenic diabetes. Figure S3. Hierarchical clustering of 1495 patients with a clinical suspicion of monogenic diabetes. (304 ko). (DOCX 290 kb)

Published
2019
Full Text
View/download PDF

10. mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases

Author

Johnson, Simon C., primary, Martinez, Frank, additional, Bitto, Alessandro, additional, Gonzalez, Brenda, additional, Tazaerslan, Cagdas, additional, Cohen, Camille, additional, Delaval, Laure, additional, Timsit, José, additional, Knebelmann, Bertrand, additional, Terzi, Fabiola, additional, Mahal, Tarika, additional, Zhu, Yizhou, additional, Morgan, Philip G., additional, Sedensky, Margaret M., additional, Kaeberlein, Matt, additional, Legendre, Christophe, additional, Suh, Yousin, additional, and Canaud, Guillaume, additional

Published
2019
Full Text
View/download PDF

11. Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436–1443

Author

Dubois-Laforgue, Danièle, primary, Cornu, Erika, additional, Saint-Martin, Cécile, additional, Coste, Joël, additional, Bellanné-Chantelot, Christine, additional, and Timsit, José, additional

Published
2017
Full Text
View/download PDF

12. Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule

Author

Terryn, Sara, primary, Tanaka, Karo, additional, Lengelé, Jean-Philippe, additional, Olinger, Eric, additional, Dubois-Laforgue, Danièle, additional, Garbay, Serge, additional, Kozyraki, Renata, additional, Van Der Smissen, Patrick, additional, Christensen, Erik I., additional, Courtoy, Pierre J., additional, Bellanné-Chantelot, Christine, additional, Timsit, José, additional, Pontoglio, Marco, additional, and Devuyst, Olivier, additional

Published
2016
Full Text
View/download PDF

13. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects.

Author

Dubois-Laforgue, Daniìle, Cornu, Erika, Saint-Martin, Cécile, Coste, Jöel, Bellanné-Chantelot, Christine, Timsit, José, Dubois-Laforgue, Danièle, Coste, Joël, and Monogenic Diabetes Study Group of the Société Francophone du Diabète

Subjects
GENETICS of type 2 diabetes, HEPATOCYTE growth factor, TYPE 2 diabetes, HEPATOCYTE nuclear factor genetics, DIAGNOSIS of diabetes, CHRONIC kidney failure, INSULIN therapy, KIDNEY disease diagnosis, TYPE 2 diabetes diagnosis, PROTEIN metabolism, TYPE 2 diabetes complications, BLOOD sugar, CARDIOVASCULAR diseases, COMPARATIVE studies, DIABETIC retinopathy, GENETIC techniques, KIDNEY diseases, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, GENETIC mutation, PROGNOSIS, PROTEINS, RESEARCH, EVALUATION research, BODY mass index, RETROSPECTIVE studies, DISEASE complications, DIAGNOSIS
Abstract

Objective: Molecular defects of hepatocyte nuclear factor 1B (HNF1B) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term.Research Design and Methods: This multicenter retrospective cohort study included 201 patients, aged 18 years or older at follow-up, with HNF1B mutations (n = 101) or deletion (n = 100).Results: Diabetes was present in 159 patients. At diagnosis, clinical symptoms of diabetes were present in 67 of 144 patients and HNF1B renal disease in 64 of 102. Although responsiveness to sulfonylureas/repaglinide was observed in 29 of the 51 tested, 111 of 140 patients (79%) were treated with insulin at follow-up. Diabetic retinopathy and/or neuropathy were present in 46 of 114 patients. Renal cysts were present in 122 of 166 patients, chronic kidney disease stages 3-4 (CKD3-4) in 75 of 169 (44%), and end-stage renal disease (ESRD) in 36 of 169 (21%). Compared with the patients with mutations, those with HNF1B deletion less often had CKD3-4/ESRD at diagnosis (11 of 43 vs. 27 of 35, P < 10-4) and in the long term (40 of 78 vs. 71 of 91, P = 0.0003). They were leaner and more frequently treated with insulin.Conclusions: In patients with HNF1B syndrome, diabetes complications, cardiovascular risk factors, CKD3-4, and ESRD are highly prevalent. At diabetes diagnosis, the presence of morphological and/or functional kidney disease may help etiological diagnosis. Genotype/phenotype correlations may have implications for the care and the prognosis of these patients. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

14. Faut-il changer le statut de l'hôpital public? Question à la Fédération hospitalière de France.

Author

Grimaldi, André, Gervais, Anne, Hoarau, Gisèle, Pierru, Frédéric, Nisand, Israël, Salomon, Rémi, Wolkenstein, Pierre, Hartemann, Agnès, Trévidic, Jacques, Picherot, Georges, Vernant, Jean-Paul, Fischer, Alain, Timsit, José, Fontaine, Bertrand, Sahel, José-Alain, Rigalleau, Vincent, Gaudric, Alain, Andreelli, Fabrizio, Penfornis, Alfred, and Blicklé, Jean-Frédéric

Abstract

Copyright of Médecine Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2017
Full Text
View/download PDF

15. Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects. Diabetes Care 2017;40:1436-1443.

Author

Clissold, Rhian L., Harries, Lorna W., Ellard, Sian, Bingham, Coralie, Hattersley, Andrew T., Dubois-Laforgue, Danièle, Cornu, Erika, Saint-Martin, Cécile, Coste, Jöel, Bellanné-Chantelot, Christine, and Timsit, José

Subjects
DIABETES, HEPATOCYTE nuclear factors, DIABETIC nephropathies, PROGNOSIS, COMPARATIVE studies, GENETIC techniques, RESEARCH methodology, MEDICAL cooperation, GENETIC mutation, TYPE 2 diabetes, PROTEINS, RESEARCH, RESEARCH funding, PHENOTYPES, EVALUATION research, GENOTYPES
Published
2018
Full Text
View/download PDF

17. Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects. Diabetes Care 2017;40:1436-1443.

Author

Dubois-Laforgue D, Cornu E, Saint-Martin C, Coste J, Bellanné-Chantelot C, and Timsit J

Subjects
Adult, Diabetes Mellitus, Type 2, Genotype, Humans, Mutation, Phenotype, Prognosis, Genetic Association Studies, Hepatocyte Nuclear Factor 1-beta genetics
Published
2018
Full Text
View/download PDF

18. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects.

Author

Dubois-Laforgue D, Cornu E, Saint-Martin C, Coste J, Bellanné-Chantelot C, and Timsit J

Subjects
Adolescent, Adult, Blood Glucose metabolism, Body Mass Index, Cardiovascular Diseases etiology, Cardiovascular Diseases genetics, Child, Diabetes Mellitus, Type 2 complications, Diabetes Mellitus, Type 2 drug therapy, Diabetes Mellitus, Type 2 genetics, Diabetic Retinopathy complications, Diabetic Retinopathy diagnosis, Diabetic Retinopathy genetics, Female, Follow-Up Studies, Gene Deletion, Genetic Association Studies, Hepatocyte Nuclear Factor 1-beta metabolism, Humans, Insulin therapeutic use, Kidney Diseases complications, Kidney Diseases diagnosis, Kidney Diseases genetics, Male, Prognosis, Retrospective Studies, Risk Factors, Young Adult, Cardiovascular Diseases epidemiology, Diabetes Mellitus, Type 2 diagnosis, Diabetic Retinopathy epidemiology, Hepatocyte Nuclear Factor 1-beta genetics, Kidney Diseases epidemiology
Abstract

Objective: Molecular defects of hepatocyte nuclear factor 1B ( HNF1B ) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B . Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term., Research Design and Methods: This multicenter retrospective cohort study included 201 patients, aged 18 years or older at follow-up, with HNF1B mutations ( n = 101) or deletion ( n = 100)., Results: Diabetes was present in 159 patients. At diagnosis, clinical symptoms of diabetes were present in 67 of 144 patients and HNF1B renal disease in 64 of 102. Although responsiveness to sulfonylureas/repaglinide was observed in 29 of the 51 tested, 111 of 140 patients (79%) were treated with insulin at follow-up. Diabetic retinopathy and/or neuropathy were present in 46 of 114 patients. Renal cysts were present in 122 of 166 patients, chronic kidney disease stages 3-4 (CKD3-4) in 75 of 169 (44%), and end-stage renal disease (ESRD) in 36 of 169 (21%). Compared with the patients with mutations, those with HNF1B deletion less often had CKD3-4/ESRD at diagnosis (11 of 43 vs. 27 of 35, P < 10 -4 ) and in the long term (40 of 78 vs. 71 of 91, P = 0.0003). They were leaner and more frequently treated with insulin., Conclusions: In patients with HNF1B syndrome, diabetes complications, cardiovascular risk factors, CKD3-4, and ESRD are highly prevalent. At diabetes diagnosis, the presence of morphological and/or functional kidney disease may help etiological diagnosis. Genotype/phenotype correlations may have implications for the care and the prognosis of these patients., (© 2017 by the American Diabetes Association.)

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results