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Background Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure. Methods A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. Whole exome sequencing (WES)–based molecular diagnosis was performed for all affected individuals. Results The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%. Nephrolithiasis and/or nephrocalcinosis were present in all patients. Kidney stones were present in 72%, nephrocalcinosis in 60%, hematuria in 32%, proteinuria in 16%, abdominal pain in 36%, developmental delay in 8%, and chronic kidney disease stage 5 (CKD stage 5) was observed in 28% of the patients. The most common PH disorder was type I caused by variants in the AGXT gene, accounting for 56%. The GRHPR gene variants were identified in 4 patients, 16% of the total cases. Seven patients did not reveal any associated variants. Missense variants were the most commonly observed variants (48%), followed by frame-shift duplication variants (28%). Conclusions Characterization of the genetic and clinical aspects of PH in this unique population provides direction for improved patient management and further research. Graphical abstract

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.

Introduction: Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset of end-stage kidney disease (ESKD) during infancy. We aimed to analyze the outcome of these patients as our current understanding is limited owing to a paucity of reports. Methods: A retrospective registry study was conducted using data from the OxalEurope registry. All PH1 patients with ESKD onset at age

Primary hyperoxaluria type 1 (PH1) is a rare, progressive, genetic disease with limited treatment options. We report the efficacy and safety of lumasiran, an RNA interference therapeutic, in infants and young children with PH1.This single-arm, open-label, phase 3 study evaluated lumasiran in patients aged6 years with PH1 and an estimated glomerular filtration rate45 mL/min/1.73 mAll patients (N = 18) completed the 6-month primary analysis period. Median age at consent was 50.1 months. Least-squares mean percent reduction in spot UOx:Cr was 72.0%. At month 6, 50% of patients (9/18) achieved spot UOx:Cr ≤1.5× upper limit of normal. Least-squares mean percent reduction in plasma oxalate was 31.7%. The most common treatment-related adverse events were transient, mild, injection-site reactions.Lumasiran showed rapid, sustained reduction in spot UOx:Cr and plasma oxalate and acceptable safety in patients aged6 years with PH1, establishing RNA interference therapies as safe, effective treatment options for infants and young children.

Summary During the past decade, health technology assessment bodies have faced new challenges in establishing the benefits of new drugs for individuals and health-care systems. A topic of increasing importance to the field of oncology is the so-called agnostic regulatory approval of targeted therapies for cancer (independent of tumour location and histology) granted on the basis of basket trials. Basket trials in oncology offer the advantage of simultaneously evaluating treatments for multiple tumours, even rare cancers, in a single clinical trial. To address the novel challenges introduced by these trials, an interdisciplinary panel was convened on behalf of the Transparency Committee of the French National Authority for Health to clarify an approach designed to guarantee a transparent, reproducible, and fair assessment of histology-agnostic treatments for reimbursement by the French National Health Insurance Fund. The requirements of this approach include the need for randomisation, clinically relevant endpoints, appropriate correction for multiple significance testing, characterisation of subgroup heterogeneity, and validation of underlying biomarker assays. A prospectively designated external control is encouraged when the implementation of a direct comparison is deemed infeasible. We also underline the importance of recording outcomes from basket trials in a registry for use as future external controls.

Resumen En la actualidad, la incidencia de las litiasis en los ninos se encuentra en constante aumento y presentan modificaciones morfoconstitucionales, en particular en los paises desarrollados. Su formacion es multifactorial y se relaciona con un desequilibrio entre promotores e inhibidores de la cristalizacion, que casi siempre se asocia a una sobresaturacion cristalina por defecto de diuresis. Las litiasis son en su mayoria secundarias a factores ambientales o infecciosos, en particular en ninos menores de 5 anos, con predominio masculino. Sin embargo, en alrededor del 10% de los casos, las causas son geneticas monogenicas. Estas enfermedades litiasicas hereditarias suelen ser enfermedades minoritarias, autosomicas recesivas, graves y tempranas, que pueden complicarse con una insuficiencia renal cronica. El desafio consiste en ser capaz de identificarlas entre todas las demas etiologias. Por lo tanto, resulta indispensable un estudio completo ante todo episodio inicial de litiasis en un nino, que incluya el analisis morfoconstitucional del calculo, la cristaluria y un estudio biologico de clarificacion. En funcion de los resultados, se pueden proponer exploraciones funcionales para orientar el diagnostico y guiar el estudio genetico, en particular en las litiasis oxalocalcicas. El estudio radiologico se limita, en los ninos, a la ecografia renal y de las vias urinarias asociada a una radiografia simple de abdomen si es necesario, lo que permite diagnosticar y seguir la evolucion de los calculos. Las etiologias son multiples. Las litiasis de oxalato de calcio son actualmente las mas numerosas y van en aumento, por delante de las litiasis de fosfato de calcio. La cistinuria constituye alrededor del 5% de las litiasis del nino. Las litiasis de acido urico siguen siendo muy poco frecuentes en comparacion con los adultos y pueden ser secundarias a causas geneticas. El tratamiento medico se basa en la hiperhidratacion sistematica asociada a medidas especificas en funcion de la etiologia. El tratamiento urologico puede mostrarse complejo. Los procedimientos de cirugia abierta deben limitarse al maximo, en favor de la litotricia extracorporea y las tecnicas endoscopicas segun el tamano del nino.

Resumen En el momento actual, la litiasis del nino presenta una incidencia en constante aumento y unas modificaciones morfoconstitucionales, en especial en los paises desarrollados. Su formacion es multifactorial, relacionada con un desequilibrio entre promotores e inhibidores de la cristalizacion, con mucha frecuencia asociada a una sobresaturacion cristalina por escasa diuresis. La mayoria de las litiasis son secundarias a factores ambientales o infecciosos, en especial en el nino menor de 5 anos, con un predominio masculino. Sin embargo, alrededor del 10% de ellas tienen relacion con causas geneticas monogenicas. Estas enfermedades litiasicas hereditarias suelen ser enfermedades autosomicas recesivas raras, graves, precoces y que pueden complicarse con una insuficiencia renal cronica. Todo el reto es identificarlas entre otras etiologias. Para ello, es indispensable un estudio completo ante un primer episodio litiasico en el nino, que comprende el analisis morfoconstitucional del calculo, la cristaluria y un estudio biologico de rutina. Segun los resultados, pueden solicitarse exploraciones funcionales para orientar el diagnostico y guiar el estudio genetico, en particular en las litiasis oxalocalcicas. En el nino, el estudio radiologico se limita a la ecografia renal y de las vias urinarias, asociada a una radiografia simple de abdomen si es necesario, lo cual permite diagnosticar y seguir la evolucion de los calculos. Las etiologias son multiples. La litiasis de oxalato calcico es actualmente la mas numerosa y va en aumento, por delante de las litiasis de fosfato de calcio. La cistinuria representa alrededor del 5% de las litiasis del nino. La litiasis de acido urico es muy rara en comparacion con los adultos y puede ser secundaria a causas geneticas. El tratamiento medico se basa en la hiperhidratacion sistematica asociada a medidas especificas segun la etiologia. El tratamiento urologico puede ser complejo. La cirugia abierta debe reducirse al minimo en provecho de la litotricia extracorporea y las tecnicas endoscopicas segun la corpulencia del nino.

Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. As glomerular filtration decreases, a systemic overload appears and spares no organ. Treatment has hitherto been based on combined liver and kidney transplantation, with significant mortality and morbidity. The recent introduction of interfering RNA treatments opens up new perspectives. By blocking an enzymatic synthesis (glycolate oxidase or lacticodehydrogenase a) upstream of the deficit that causes the disease, oxaluria normalizes and the tolerance of the drug (administered by injection every 1 to 3 months) is good. This strategy will help prevent kidney failure in patients treated early and avoid liver transplantation in those who are diagnosed at an advanced stage of kidney failure.

Resume Des recommandations specifiques a la nephrologie ont ete redigees sous l’egide de l’Association internationale de nephrologie pediatrique en 2011. Ces recommandations preconisent une transition individualisee, debutant entre 12 et 14 ans, avec des informations sur la maladie et les traitements du patient adaptees a l’âge et au niveau intellectuel. Les recommandations insistent sur l’importance d’identifier un referent pediatre et un referent en service adulte, ainsi qu’une equipe paramedicale et de travailleurs sociaux ; elles insistent egalement sur l’importance d’associer les aidants (les familles et l’entourage proche, etc.), la necessite d’un dossier specifique de transition et d’une visite prealable du service adulte avant le transfert. L’International Pediatric Nephrology Association recommande que le transfert soit realise au « bon moment » de la vie du jeune et non a ses 18 ans ; ce « bon moment » etant defini par le moment ou le jeune se sent pret, en periode de stabilite aussi bien medicale que familiale, scolaire et sociale. Afin de fournir au jeune des competences d’autogestion (empowerment) appropriees de sa maladie et de sa vie, dans le cadre de la filiere maladies renales rares (ORKiD), nous avons elabore un programme avec questionnaire adapte a l’âge en nous inspirant de celui mis en place a Southampton au Royaume-Uni. Ce document presente les outils developpes par le groupe de travail de la filiere de soins ORKiD.

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by the functional defect of alanine-glyoxylate aminotransferase that results in the overproduction of oxalate. It can be devastating especially for kidneys, leading to end-stage renal disease (ESRD) during the first 2 to 3 decades of life in most patients. Consequently, many PH1 patients need kidney transplantation. However, because PH1 is caused by a liver enzyme deficiency, the only cure of the metabolic defect is liver transplantation. Thus, current transplant strategies to treat PH1 patients with ESRD include dual liver–kidney transplantation. However, the morbidity and mortality associated with liver transplantation make these strategies far from optimal. Fortunately, a therapeutic revolution is looming. Indeed, innovative drugs are being currently tested in clinical trials, and preliminary data show impressive efficacy to reduce the hepatic overproduction of oxalate. Hopefully, with these therapies, liver transplantation will no longer be necessary. However, some patients with progressing renal disease or those who will be diagnosed with PH1 at an advanced stage of chronic kidney disease will ultimately need kidney transplantation. Here we review the current knowledge on this subject and discuss the future of kidney transplant management in PH1 patients in the era of novel therapies.

Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure.A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. Whole exome sequencing (WES)-based molecular diagnosis was performed for all affected individuals.The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%. Nephrolithiasis and/or nephrocalcinosis were present in all patients. Kidney stones were present in 72%, nephrocalcinosis in 60%, hematuria in 32%, proteinuria in 16%, abdominal pain in 36%, developmental delay in 8%, and chronic kidney disease stage 5 (CKD stage 5) was observed in 28% of the patients. The most common PH disorder was type I caused by variants in the AGXT gene, accounting for 56%. The GRHPR gene variants were identified in 4 patients, 16% of the total cases. Seven patients did not reveal any associated variants. Missense variants were the most commonly observed variants (48%), followed by frame-shift duplication variants (28%).Characterization of the genetic and clinical aspects of PH in this unique population provides direction for improved patient management and further research. A higher resolution version of the Graphical abstract is available as Supplementary information.

Chronic kidney disease; Pediatric nephrology; Urology Malaltia renal crònica; Nefrologia pediàtrica; Urologia Enfermedad renal crónica; Nefrología pediátrica; Urología Nedosiran is an investigational RNA interference agent designed to inhibit expression of hepatic lactate dehydrogenase, the enzyme thought responsible for the terminal step of oxalate synthesis. Oxalate overproduction is the hallmark of all genetic subtypes of primary hyperoxaluria (PH). In this double-blind, placebo-controlled study, we randomly assigned (2:1) 35 participants with PH1 (n = 29) or PH2 (n = 6) with eGFR ≥30 mL/min/1.73 m2 to subcutaneous nedosiran or placebo once monthly for 6 months. The area under the curve (AUC) of percent reduction from baseline in 24-hour urinary oxalate (Uox) excretion (primary endpoint), between day 90–180, was significantly greater with nedosiran vs placebo (least squares mean [SE], +3507 [788] vs −1664 [1190], respectively; difference, 5172; 95% CI 2929–7414; P < 0.001). A greater proportion of participants receiving nedosiran vs placebo achieved normal or near-normal (

International audience; No abstract available

The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development—based on school level—of 223 children included in this prospective cohort was studied. Data from 180 children were available for analysis. Patients mean age was 9.6 years, with 39.9% of girls. Among these patients, 119 carried a HNF1B deletion and 61 a disease-associated variant. In the school-aged population, 12.7 and 3.6% of patients carrying a HNF1B deletion and a disease-associated variant had special educational needs, respectively. Therefore, the presence of a HNF1B deletion increases the risk to present with a neuropsychiatric involvement when compared with the general population. On the other hand, almost 90% of patients carrying a HNF1B disease-associated variant or deletion have a normal schooling in a general educational environment. Even if these findings do not predict the risk of neuropsychiatric disease at adulthood, most patients diagnosed secondary to kidney anomalies do not show a neurological outcome severe enough to impede standard schooling at elementary school. These results should be taken into account in prenatal counseling.

Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder leading to impaired net acid excretion by the kidney inducing hyperchloremic metabolic acidosis and hypokalemia. The therapeutic effect of the standard of care is of short duration and requires multiple day and night administrations; it is also often accompanied by gastrointestinal discomfort and poor palatability impacting medication adherence. ADV7103, the first advanced therapy for dRTA, consists of a combination of prolonged-release potassium citrate and prolonged-release potassium bicarbonate granules providing round-the-clock alkali and potassium coverage with twice daily administration. Long-term adherence with ADV7103 is reported, along with acceptability of the product. Method B22CS is a multicentre, open-label long-term extension study, evaluating safety, tolerability, acceptability and efficacy of ADV7103 in adult and paediatric patients with dRTA. Adherence was assessed at each study visit up to 24 months, based on accountability of study drug retrieval, laboratory results, and interview of the patients in a diary and expressed as the proportion of patients that presented adherence lower than 50%, between 50% and 74%, between 75 and 90%, and higher than to 90%. Treatment acceptability as well as quality of life of the patients and their parents were assessed using a 100-mm visual analogue scales (VAS). Results Table 1 shows the evolution of compliance between Month 6 and Month 24. Overall, of the 29 patients remaining in the study after 24 months, 18 (62%) had adherence rates >90%, 5 (17%) had adherence rates of 75-90%, 6 (21%) had adherence rates of 50-74%, and there were no patients with adherence Compared to the alkalising treatments they had before the study, more than 80% of the patients perceived both the improvement of the formulation and of the number of daily doses at scores ≥ 75 mm. The overall improvement of quality of life reported by the patients was of 89 ± 19 mm and that reported by their parents was of 90 ± 14 mm after 24 months of treatment. Conclusion Adherence to treatment was maintained at a high level throughout the 24 months of the study confirming the good acceptance of ADV7103 therapy.

Objectives The one-compartment iohexol plasma clearance has been proposed as a reliable alternative to renal inulin clearance. However, this method’s performance depends on the formula used to calculate glomerular filtration rate (GFR). This study reports on performance comparisons between various mathematical formulas proposed for iohexol plasma clearance vs. inulin urinary clearance. Methods GFR was simultaneously determined by inulin and iohexol clearance in 144 participants (age: 10–84 years; glomerular filtration rate: 15–169 mL/min/1.73 m2). A retrospective cross-sectional study evaluated the performance of four formulas proposed to calculate plasma iohexol clearance (Brøchner–Mortensen, Fleming et al., Jødal–Brøchner–Mortensen, and Ng–Schwartz–Munoz). The performance of each formula was assessed using bias, precision (standard deviation of the bias), accuracy (percentage iohexol within 5, 10, and 15%), root mean square error, and concordance correlation coefficient vs. renal inulin clearance as reference. Results Regarding accuracy, there was no difference in root mean square error (RMSE), P5, P10, or P15 between the four formulas. The four concordance correlation coefficients (CCC) between the value from each formula and in-GFR were high and not significantly different. At in-GFR ≥90 mL/min/1.73 m2, Ng–Schwartz–Munoz formula performed slightly better than other formulas regarding median bias (−0.5; 95% CI [−3.0 to 2.0] and accuracy P15 (95.0; 95% CI [88.0–100.0]). Conclusions The studied formulas were found equivalent in terms of precision and accuracy, but the Ng–Schwartz–Munoz formula improved the accuracy at higher levels of in-GFR.

International audience; INTRODUCTION: In nephropathic cystinosis (NC), adherence to cysteamine remains challenging; poor adherence is worsening the disease progression with a decline of kidney function and increase of extrarenal morbidities. Our objective was to describe adherence to cysteamine in NC patients, using electronic monitoring systems. METHODS: Patients with confirmed NC, aged \textgreater 4 years and receiving oral cysteamine (short acting or delayed release formulation as standard of care) from 3 French reference centers, were included. Adherence to treatment was primarily assessed as the percentage of days with a good adherence score, adherence score rating from 0 (poor) to 2 (good). A descriptive analysis was performed after 1-year follow-up. RESULTS: Seventeen patients (10 girls, median age: 13.9 (5.4-33.0) years) were included. Median age at diagnosis was 17.0 (3.0-76.9) months and age at start of cysteamine was 21.0 (15.5-116.3) months. Median daily dose of cysteamine was 1.05 (0.55-1.63) g/m(2)/day. Over the year, the median percentage of days with a good adherence score was 80 (1-99)% decreasing to 68 (1-99)% in patients \textgreater 11 years old. The median of average number of hours covered by treatment in a day was 22.5 (6.1-23.9) versus 14.9 (9.2-20.5) hours for delayed release versus short acting cysteamine. CONCLUSION: Our data are the first describing a rather good adherence to cysteamine, decreasing in adolescents and adults. We described a potential interest of the delayed release formulation. Our data highlight the need for a multidisciplinary approach including therapeutic education and individualized approaches in NC patients transitioning to adulthood. Graphical abstract.

Eplet incompatibility appears to be a better predictor of the de novo appearance of DSA post-Tx than HLA antigen matching in adults. We evaluated the HLA Matchmaker® software (version 2.1) in our pediatric cohort to predict the appearance of DSA post-Tx. We included 70 pediatric patients (26 girls, 10 living donors, mean age 11.2 ± 3.9 years) after a first R-Tx (January 2010-August 2016), without prior immunization, having complete HLA typing (A, B, C, DRB1 and DQB1) and DSA follow-up for at least one year. The mean of HLA and eplet incompatibilities was 4.7 ± 1.3 and 15.5 ± 6.1, respectively, with a correlation coefficient r2 between these two variables of 0.34 (P < .001). The eplet load was 12.8 ± 5.0 in living donors vs 15.9 ± 6.2 in deceased donors (P = NS), 12.6 ± 6.1 in preemptive R-Tx (n = 14) vs 16.3 ± 5.9 for non-preemptive R-Tx (P = .04). Seven patients (10%) developed DSA during the 3.5 ± 1.2 years post-Tx. The eplet load was 13.7 ± 5.5 for those who developed DSA vs 15.7 ± 6.1 for the others (P = NS). In our single-center series of pediatric R-Tx with good HLA matching and lower eplet load than previously published series, eplet incompatibilities do not predict the development of DSA. The question of the HLA matching requirement and the daily interest of the HLA Matchmaker® software to help select the grafts remain open.

Resume Objectif La polykystose renale recessive (PKR) est due a des mutations du gene PKHD1. L’objectif de l’etude est de caracteriser la variabilite phenotypique en fonction des differentes mutations de PKHD1. Methodes L’etude a ete realisee chez 308 patients atteints de PKR, diagnostiques dans notre laboratoire de genetique. Les medecins prescripteurs des analyses genetiques avaient fourni des donnees cliniques et biologiques minimales. Resultats Les patients ont ete divises en trois groupes genotypiques : le premier groupe (G1 ; n = 65) concernait les patients ayant deux mutations tronquantes, le second groupe (G2 ; n = 117) des patients avec une mutation tronquante et une mutation non tronquante, et le troisieme groupe (G3 ; n = 126) etait constitue des patients ayant deux mutations non tronquantes. Au total, 31 % des grossesses ont fait l’objet d’une interruption medicale de grossesse, 18 % des enfants sont decedes en periode neonatale, et 51 % des patients ont survecu apres la periode neonatale ; la proportion des patients ayant un phenotype severe (defini par une interruption medicale de grossesse ou un deces neonatal) etait significativement plus elevee dans le groupe G1 : 94 %, par rapport aux groupes G2 (47 %) et G3 (27 % ; p Conclusion La presence de deux mutations tronquantes du gene PKHD1 est associee a un phenotype perinatal et post-natal severe. Toutefois, la variabilite phenotypique des autres groupes genotypiques necessite une discussion au cas par cas lors du diagnostic antenatal.

El sindrome de Fanconi o de De Toni- Debre-Fanconi consiste en una insuficiencia tubular proximal que comporta una sintomatologia clinica comun mas o menos completa y que tiene numerosas etiologias primarias o adquiridas. El tubulo proximal es el principal punto de reabsorcion de agua y de muchos electrolitos, a traves de diversos mecanismos: reabsorcion activa o paracelular, transportadores especificos o endocitosis. Los signos clinicos y biologicos asocian principalmente, en funcion de la edad: poliuria-polidipsia, raquitismo u osteomalacia por fosfato-diabetes, retraso del crecimiento ponderoestatural multifactorial y acidosis por perdida de bicarbonato. La etiologia mas frecuente de las formas primarias es la cistinosis, una enfermedad lisosomica autosomica recesiva poco frecuente debida a numerosas mutaciones del gen CTNS que codifica la cistinosina. La compleja fisiopatologia va mas alla de la simple acumulacion de cistina en los tejidos: alteracion de las vias de senalizacion de endocitosis, autofagia y apoptosis celular. Los primeros signos clinicos aparecen hacia los 6 meses de edad, con un sindrome de Fanconi completo y grave. El diagnostico, que clasicamente se establece hacia la edad de 1 ano, constituye una urgencia terapeutica mediante la correccion de la tubulopatia proximal que causa el fallecimiento en la infancia y mediante el inicio temprano de la administracion de cisteamina por via oral, que condiciona el pronostico renal y extrarrenal a largo plazo. La afectacion corneal requiere la aplicacion de cisteamina por via topica varias veces al dia. En 30 anos, el perfil evolutivo de la enfermedad se ha transformado gracias a la cisteamina: retraso de la edad de la insuficiencia renal terminal y de las complicaciones extrarrenales (hipotiroidismo, diabetes, complicaciones neuromusculares); el 50% de los pacientes son ahora adultos, lo que comporta la creacion de consultas multidisciplinarias adaptadas a ellos que, hasta hace pocos anos, solo estaban formadas por nefropediatras.

Bone impairment appears to be a novel complication of nephropathic cystinosis despite cysteamine therapy. Its exact underlying pathophysiology is nevertheless unclear. The objective of this study was to evaluate bone status among patients included in the French Crystobs study. In addition to clinical data, bone status was evaluated using biomarkers (ALP, PTH, 25-D, 1-25D, FGF23), DXA (spine and total body), and high-resolution peripheral quantitative computed tomography (HR-pQCT) at the tibia and radius. Results were compared to age- and gender-matched healthy controls (1:2 basis) from the local reference cohorts. At a median age of 22.5 (10.2–34.6) years, 10 patients with nephropathic cystinosis were included (2 receiving conservative therapies, 2 undergoing hemodialysis, 6 with a past of renal transplantation); 7 out of 10 patients complained of a bone symptom (past of fracture, bone deformations, and/or bone pain). Biochemicals and spine DXA did not show any significant abnormalities. Using HR-pQCT, significant decreases in cortical parameters (e.g., cortical thickness 850 (520–1100) versus 1225 (480–1680) μm; p

In nephrology, some diseases begin specifically during childhood; however, they must be known by adult nephrologists so that to ensure continuity and homogeneity for their management. The aim of this review is therefore to propose a brief overview of the main pediatric diseases, for which a specific knowledge is warranted, and notably pediatric idiopathic nephrotic syndrome, cystinosis, primary hyperoxaluria and hereditaries tubulopathies.

Resume La trisomie 21 (T21) est frequemment associee a des malformations congenitales, habituellement cardiaques : les atteintes renales sont peu connues. L’objectif de notre travail est de presenter la diversite de ces anomalies. Les uropathies malformatives sont les plus frequemment rapportees, parmi lesquelles les pyelectasies, les mega-ureteres et les valves de l’uretre posterieur. Les anomalies renales sont principalement l’hypodysplasie, le rein en fer en cheval et l’ectopie renale. Des facteurs favorisant l’insuffisance renale aigue sont egalement decrits : anomalies bilaterales et atteintes dites « mineures » comme par exemple les microkystes glomerulaires, les dilatations tubulaires et les glomerules immatures. Les lesions histologiques observees ne sont pas specifiques mais surviennent plus precocement que dans la population generale. Deux particularites metaboliques sont a noter : la baisse de la clairance de l’acide urique et l’hypercalciurie par hyperabsorption passive du calcium. Ces anomalies peuvent evoluer vers l’insuffisance renale terminale, soulevant la problematique du choix de la meilleure prise en charge. Les anomalies renales de la T21 meritent d’etre connues afin de preserver le pronostic fonctionnel renal, en proposant un depistage systematique par echographie renale et des voies urinaires.

RESUME Les hyperoxaluries primitives sont transmises sur le mode autosomique recessif; il s’agit d’affections rares et souvent graves, engageant alors le pronostic renal et parfois le pronostic vital, notamment dans les formes a debut precoce. Le type 1, le plus frequent, resulte d’un deficit enzymatique (alanine-glyoxylate aminotransferase) dans les peroxysomes du foie, a l’origine d’une hyperoxalurie qui s’exprime initialement par des calculs avec ou sans nephrocalcinose. Au fur et a mesure que la filtration glomerulaire diminue, une surcharge systemique apparait et n’epargne aucun organe, mais l’essentiel du stockage de l’oxalate est osseux. Le diagnostic repose sur l’oxalurie, puis le genotypage, car la confirmation du type d’hyperoxalurie est indispensable a la prise en charge et permet le diagnostic prenatal. Le traitement conservateur (pyridoxine, hydratation, inhibiteurs de la cristallisation) est essentiel et doit etre precoce. Aucune methode de dialyse n’est suffisamment efficace pour compenser la production d’oxalate, de sorte que la transplantation hepatique et renale doit etre planifiee avant le stade d’insuffisance renale avancee, pour limiter les degâts de la thesaurismose. Dans un avenir proche, de nouvelles therapeutiques — notamment ARN interferant — pourront remplacer ou completer la transplantation d’organes. Les hyperoxaluries primitives de type 2 et 3 sont plus rares et ont un phenotype moins severe.

We report three pediatric cases of concomitant congenital Horner and Harlequin syndromes. This association suggests a lesion at the superior cervical ganglion or just inferior. Often, no underlying lesion is documented.

INTRODUCTION AND OBJECTIVES:PH1 is a genetic disorder characterized by hepatic overproduction of oxalate, which crystalizes with calcium in the urinary system to become toxic; this manifests with r...

Primary hyperoxaluria (PH) is a rare, genetic disorder which involves the overproduction of endogenous oxalate, leading to hyperoxaluria, recurrent urolithiasis and/or progressive nephrocalcinosis and eventually resulting in kidney failure and systemic oxalosis. The aim of this trial was to investigate whether treatment involving an oxalate-metabolising bacterium (Oxalobacter formigenes) could reduce urinary oxalate excretion in PH patients. The efficacy and safety of O. formigenes (Oxabact® OC5; OxThera AB, Stockholm, Sweden) was evaluated in a randomised, placebo-controlled, double-blind study for 8 weeks. The primary objective was reduction in urinary oxalate excretion (Uox). Secondary objectives included faecal O. formigenes count and decrease in plasma oxalate concentration (Pox). Twenty-eight patients randomised 1:1 to the treatment group (OC5) or the placebo group completed the study. After 8 weeks of treatment, there was no significant difference in the change in Uox (mmol/24 h/1.73 m2) between the groups (OC5: +0.042, placebo: −0.140). Post-hoc analysis showed a statistically significant increase in Uox per urinary creatinine excretion in the OC5 group (OC5: +5.41, placebo: −15.96; p = 0.030). Change in Pox from baseline was not significantly different between groups (p = 0.438). The O. formigenes cell count was significantly increased in OC5-treated patients (p

Munchausen syndrome by proxy is a persistent fabrication of illness done by a person to another. Renal and urologic forms of this syndrome are not as uncommon as can be thought; a review of all the cases of Munchausen-by-proxy syndrome reveals that 25% of the children had renal or urologic issues. This syndrome can result in a serious diagnostic dilemma for the physicians; knowing this entity can allow early recognition of falsification and limit the physical and psychological damages caused in the victim. In this study, we reviewed the pediatric nephrology cases of Munchausen syndrome by proxy, grouping them through the principal signs of presentation.

Introduction L’hyperoxalurie primaire de type I (HP1) est une maladie genetique rare, caracterisee par une production hepatique excessive d’oxalate, une excretion urinaire elevee d’oxalate, des calculs renaux recurrents et une nephrocalcinose, la progression vers l’insuffisance renale chronique et l’accumulation systemique d’oxalate dans tous les organes. Il n’existe aucun traitement pharmacologique approuve. Le lumasiran, un ARNi therapeutique experimental administre par voie sous-cutanee, cible la glycolate-oxydase et reduit la production hepatique d’oxalate. Description Nous presentons ici les resultats a 6 mois de l’essai ILLUMINATE-A, une etude controlee de phase 3, randomisee en double aveugle contre placebo. Methodes Les criteres d’inclusion etaient : âge ≥ 6 ans, diagnostic d’HP1 confirme par genotypage, excretion urinaire spontanee d’oxalate (UOx) ≥ 0,70 mmoL/24 h/1,73 m2, debit de filtration glomerulaire calcule ≥ 30 mL/min/1,73 m2. La randomisation a permis une attribution du lumasiran a 26 malades et d’un placebo a 13 malades. Le lumasiran a ete donne a la dose de 3 mg/kg par mois pendant trois mois puis tous les trimestres. Resultats Le traitement par lumasiran est associe a une reduction significative d’UOx sur 24 heures dans le groupe traite par rapport au placebo : −65,4 % vs 11,8 %, respectivement (difference de 53,5 % [p = 1,7 × 10−14], par la methode des moindres carres). Quatre-vingt-quatre pour cent des malades traites par lumasiran ont atteint un niveau d’UOx sur 24 heures ≤ 1,5 × limite superieure normale a M6 (contre 0 % de ceux traites par placebo, p = 8,3 × 10−7), et une reduction de 39,5 % de l’oxalemie a M6 par rapport a la valeur initiale a ete observee (p = 2,9 × 10−8). Les evenements indesirables les plus frequents lies au lumasiran etaient des reactions legeres et transitoires au site d’injection. Il n’y a pas eu d’evenements indesirables graves ou severes. Conclusion Le traitement par lumasiran est associe a une diminution significative, rapide et soutenue de l’oxalurie avec un profil de tolerance favorable.

Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocalcinosis, renal stone formation and ultimately kidney failure. Previously, primary hyperoxaluria type 2 was considered to have a more favorable prognosis than primary hyperoxaluria type 1, but earlier reports are limited by low patient numbers and short follow up periods. Here we report on the clinical, genetic, and biochemical findings from the largest cohort of patients with primary hyperoxaluria type 2, obtained by a retrospective record review of genetically confirmed cases in the OxalEurope registry, a dataset containing 101 patients from eleven countries. Median follow up was 12.4 years. Median ages at first symptom and diagnosis for index cases were 3.2 years and 8.0 years, respectively. Urolithiasis was the most common presenting feature (82.8% of patients). Genetic analysis revealed 18 novel mutations in the GRHPR gene. Of 238 spot-urine analyses, 23 (9.7%) were within the normal range for oxalate as compared to less than 4% of 24-hour urine collections. Median intra-individual variation of 24-hour oxalate excretion was substantial (34.1%). At time of review, 12 patients were lost to follow-up; 45 of the remaining 89 patients experienced chronic kidney disease stage 2 or greater and 22 patients had reached stage 5. Median renal survival was 43.3 years, including 15 kidney transplantations in 11 patients (1 combined with liver transplantation). Renal outcome did not correlate with genotype, biochemical parameters or initially present nephrocalcinosis. Thus, primary hyperoxaluria type 2 is a disease with significant morbidity. Accurate diagnosis by 24-hour urine analysis and genetic testing are required with careful follow-up., SCOPUS: ar.j, info:eu-repo/semantics/published

Around 1/1000 people have a solitary kidney. Congenital conditions mainly include multicystic dysplastic kidney and unilateral renal aplasia/agenesis; acquired conditions are secondary to nephrectomy performed because of urologic structural abnormalities, severe parenchymal infection, renal trauma, and renal or pararenal tumors. Children born with congenital solitary kidney have a better long-term glomerular filtration rate than those with solitary kidney secondary to nephrectomy later in life. Acute and chronic adaptation processes lead to hyperfiltration followed by fibrosis in the remnant kidney, with further risk of albuminuria, arterial hypertension, and impaired renal function. Protective measures rely on non-pharmacological renoprotection (controlled protein and sodium intake, avoidance/limitation of nephrotoxic agents, keeping normal body mass index, and limitation of tobacco exposure). Lifelong monitoring should include blood pressure and albuminuria assessment, completed by glomerular filtration rate (GFR) estimation in case of abnormal values. In the absence of additional risk factors to solitary kidney, such assessment can be proposed every 5 years. There is no current consensus for indication and timing of pharmacological intervention.

Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2). In Dent-1 disease, the estimated GFR decreased with age, by 1.0 to 1.6 ml/min per 1.73 m(2)/yr in the absence and presence of nephrocalcinosis, respectively, with no significant difference. Median values of low-molecular-weight proteinuria were in the nephrotic range and remained at the same level even in late renal disease. End-stage renal disease occurred in 12 patients, at a median age of 40 years. Hypercalciuria decreased with glomerular filtration and was absent in 40% of the patients under 30 and 85% of those over the age of 30. Hypophosphatemia did not resolve with age and calcitriol concentrations were in the upper normal range. Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease.

Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The first one had a C.3536T>C missense mutation in the XDH gene and the other one was heterozygous for two mutations c.700+1G>T and c.31778_82delTCAT. We review the diagnostic methods, possible complications, and preventive measures for stone formation.

Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of systemic oxalosis. Since the bone compartment can store massive amounts of oxalate, patients present with recurrent low-trauma fractures, bone deformations, severe bone pains and specific oxalate osteopathy on plain X-ray. Bone biopsy from the iliac crest displays specific features such as oxalate crystals surrounded by a granulomatous reaction due to an invasion of bone surface by macrophages. We present data obtained in 10 samples from 8 patients with oxalosis (16-68 years) who underwent iliac crest bone biopsy and bone quality analysis using modern methods (microradiography, microindentation, Fourier Transform InfraRed Microspectroscopy, transmission electron microscopy) in addition to histomorphometry. Disseminated calcium oxalate deposits (whewellite) were found in the bone marrow space (with a granulomatous reaction) but not in the bone matrix. Calcium oxalate deposits were totally surrounded by macrophages and multinucleated giant cells, and a phagocytosis activity was sometimes observed. Very few calcium oxalate crystals were directly in close contact with the mineral substance of the bone. Bone mineralization was not modified by the presence of calcium oxalate even in close vicinity. Bone quality analysis also revealed a harder bone than normal, perhaps in relationship with decreased carbonate content in the mineral. This increase in bone hardness could explain a more "brittle" bone. In patients with oxalosis, the formation and growth of calcium oxalate crystals in the bone appeared independent of apatite. The mechanisms leading to nucleation and growth of oxalate deposits are still unclear and deserve further studies.

Background Online hemodiafiltration (oHDF) is increasingly used in children; we treated 28 children since 2009, adapting this technique to pediatric patients. Methods In this service evaluation audit, we assessed plasma electrolytes to evaluate the evolution of total (tCa) and ionized (iCa) during a session, as well as dialysate calcium (dCa) concentrations. Results Using a 1.25 mmol Ca/L-dialysate, both tCa and iCa decreased during the session, with iCa falling below 1.1 mmol/L in 4/5 patients. In contrast, using a 1.5 mmol Ca/L-dialysate, iCa remained normal in all patients. Major discrepancies were observed between the expected and the measured dCa: 1.25 vs. 1.01 (0.83–1.04), and 1.5 vs. 1.47 (0.85–1.75) mmol/L, respectively (results presented as median [range]). These differences were explained by the modality of reconstituting dialysate: increasing bicarbonates and/or decreasing sodium requested in the dialysate decreases calcium extraction from the acid preparation. Proof of concept was given when requesting in an “ex-vivo” setting modifications in the requested sodium and bicarbonate in dialysate directly on the Fresenius machine. Conclusion Nephrologists should be aware that “high bicarbonate and/or low sodium” requirements in oHDF decrease calcium in the dialysate.

Resume Le deficit en vitamine D est frequent dans la population generale et encore plus chez les patients souffrant de maladies chroniques. La prevention du rachitisme par la supplementation en vitamine D est l’une des mesures prophylactiques efficaces les plus anciennes connues en medecine. Elle a pratiquement eradique le rachitisme dans les pays developpes. Nous rapportons le cas de deux enfants, l’un ayant developpe un rachitisme mixte (carentiel et iatrogene lie aux antiepileptiques) et l’autre ayant presente un tableau d’hypercalcemie severe symptomatique secondaire a une intoxication a la vitamine D. Nous rappelons l’importance de la supplementation en vitamine D qui doit obeir a des regles precises : ni excessive, ni insuffisante. Par ailleurs, en dehors des exceptionnels surdosages en vitamine D, il doit etre tenu compte du risque d’hypercalcemie par mutation de la 24-hydroxylase ( CYP24A1 ).

Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders. Most SMS cases (90%) are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases stem from mutations of the RAI1 gene. Behavioral issues may include frequent outbursts, attention deficit/hyperactivity disorders, self-injuries with onychotillomania and polyembolokoilamania (insertion of objects into bodily orifices), etc. It is noteworthy that the longer the speech delay and the more severe the sleep disorders, the more severe the behavioral issues are. Typical sleep/wake circadian rhythm disorders associate excessive daytime sleepiness with nocturnal agitation. They are related to an inversion of the physiological melatonin secretion cycle. Yet, with an adapted therapeutic strategy, circadian rhythm disorders can radically improve. Usually an association of beta-blockers in the morning (stops daily melatonin secretion) and melatonin in the evening (mimics the evening deficient peak) is used. Once the sleep disorders are controlled, effective treatment of the remaining psychiatric features is needed. Unfortunately, as for many orphan diseases, objective guidelines have not been drawn up. However, efforts should be focused on improving communication skills. In the same vein, attention deficit/hyperactivity disorders, aggressiveness, and anxiety should be identified and specifically treated. This whole appropriate medical management is underpinned by the diagnosis of SMS. Diagnostic strategies include fluorescent in situ hybridization (FISH) or array comparative genomic hybridization (array CGH) when a microdeletion is sought and Sanger sequencing when a point mutation is suspected. Thus, the diagnosis of SMS can be made from a simple blood sample and should be questioned in subjects of any age presenting with an association of facial dysmorphism, speech delay with behavioral and sleep/wake circadian rhythm disorders, and other anomalies including short stature and mild dysmorphic features.

BACKGROUND Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical characteristics of PH3 patients have yet to be defined in sufficient detail. The aim of this study was to report our experience with PH3. METHODS Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after the presence of mutations in the alanine-glyoxylate aminotransferase gene had been ruled out. Clinical, biochemical and genetic data of the seven patients identified with HOGA1 mutations were subsequently retrospectively reviewed. RESULTS Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 (range 0.4-9.8) years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. All patients experienced persistent hyperoxaluria. Seven mutations were found in HOGA1, including two previously unreported ones, c.834 + 1G > T and c.3G > A. At last follow-up, two patients had impaired renal function based on estimated glomerular filtration rates (GFRs) of 77 and 83 mL/min per 1.73 m(2), respectively. CONCLUSIONS We found that the GFR was significantly impaired in two of our seven patients with PH3 diagnosed during childhood. This finding is in contrast to the early-impaired renal function in PH1 and PH2 and appears to refute to preliminary reassuring data on renal function in PH3.

Primary disease recurrence after renal transplantation is mainly diagnosed by examination of biopsy samples, but can also be associated with clinical symptoms. In some patients, recurrence can lead to graft loss (7-8% of all graft losses). Primary disease recurrence is generally associated with a high risk of graft loss in patients with focal segmental glomerulosclerosis, membranous proliferative glomerulonephritis, primary hyperoxaluria or atypical haemolytic uraemic syndrome. By contrast, disease recurrence is associated with a limited risk of graft loss in patients with IgA nephropathy, renal involvement associated with Henoch-Schönlein purpura, antineutrophil cytoplasmic antibody-associated glomerulonephritis or lupus nephritis. The presence of systemic diseases that affect the kidneys, such as sickle cell anaemia and diabetes mellitus, also increases the risk of delayed graft loss. This Review provides an overview of the epidemiology, pathophysiology and management of primary disease recurrence in paediatric renal graft recipients, and describes the overall effect on graft survival of each of the primary diseases listed above. With appropriate management, few paediatric patients should be excluded from renal transplantation programmes because of an increased risk of recurrence.

International audience; Cytomegalovirus is common in adult recipients (prevalence of 40-90%). Children are typically seronegative but immunosuppression may prone to primary-infection or viral reactivation, with potentially severe consequences. CMV infection incidence in pediatric kidney transplant recipients has seldom been investigated. The aim of our study was to evaluate the incidence and timing of CMV infection during the first year after renal transplantation. We assembled a retrospective cohort of 136 children who had received a kidney transplant between 2003 and 2014 with a year follow-up. The patients were classified regarding CMV infection as high risk (D+/R-), intermediate risk (R+) or low risk (D-/R-). CMV infection was defined by the viral replication remaining asymptomatic whereas CMV disease concerned viral replication with clinical and/or biological symptoms. Oral valganciclovir was used as prophylaxis for high-risk recipients. A total of 38 patients (27.9%) developed CMV infection, 13 (40.6%) of the 32 D+/R-, 24 (45.3%) of the 53 R+ and 1 (2.0%) of the 51 D-/R-. Of these 38 infected patients, 10 developed tissue-invasive disease. During the first year after kidney transplantation, 27.9% of recipients developed CMV infection. This study confirms the influence of donor and recipient CMV status on infection propensity and highlights the importance of adequate follow-up for intermediate risk patients.

The European Best Practice Guideline group (EBPG) issued guidelines on the evaluation and selection of kidney donor and kidney transplant candidates, as well as post-transplant recipient care, in the year 2000 and 2002. The new European Renal Best Practice board decided in 2009 that these guidelines needed updating. In order to avoid duplication of efforts with kidney disease improving global outcomes, which published in 2009 clinical practice guidelines on the post-transplant care of kidney transplant recipients, we did not address these issues in the present guidelines.The guideline was developed following a rigorous methodological approach: (i) identification of clinical questions, (ii) prioritization of questions, (iii) systematic literature review and critical appraisal of available evidence and (iv) formulation of recommendations and grading according to Grades of Recommendation Assessment, Development, and Evaluation (GRADE). The strength of each recommendation is rated 1 or 2, with 1 being a 'We recommend' statement, and 2 being a 'We suggest' statement. In addition, each statement is assigned an overall grade for the quality of evidence: A (high), B (moderate), C (low) or D (very low). The guideline makes recommendations for the evaluation of the kidney transplant candidate as well as the potential deceased and living donor, the immunological work-up of kidney donors and recipients and perioperative recipient care.All together, the work group issued 112 statements. There were 51 (45%) recommendations graded '1', 18 (16%) were graded '2' and 43 (38%) statements were not graded. There were 0 (0%) recommendations graded '1A', 15 (13%) were '1B', 19 (17%) '1C' and 17 (15%) '1D'. None (0%) were graded '2A', 1 (0.9%) was '2B', 8 (7%) were '2C' and 9 (8%) '2D'. Limitations of the evidence, especially the lack of definitive clinical outcome trials, are discussed and suggestions are provided for future research.We present here the complete recommendations about the evaluation of the kidney transplant candidate as well as the potential deceased and living donor, the immunological work-up of kidney donors and recipients and the perioperative recipient care. We hope that this document will help caregivers to improve the quality of care they deliver to patients. The full version with methods, rationale and references is published in Nephrol Dial Transplant (2013) 28: i1-i71; doi: 10.1093/ndt/gft218 and can be downloaded freely from http://www.oxfordjournals.org/our_journals/ndt/era_edta.html.

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 [...]

The management of tubulopathies after renal transplantation (RTx) may require high doses of sodium and bicarbonate, reducing the quality of life and therapeutic compliance of the patient. Some studies on adult patients have highlighted the benefits of fludrocortisone (fludro) in the treatment of severe tubulopathies. This study was a retrospective review of the medical charts of 15 children, aged 12.4 (range 3.6–17.4) years who received fludro after RTx. With the administration of fludro, both sodium bicarbonate and chloride supplementation decreased, from 10 (range 0–14) to 0 (0–5) g/day, and from 9 (0–20) to 0 (0–3) g/day, respectively (both p