A5101827850- Pediatric Urology and Nephrology Studies
- Ion Transport and Channel Regulation
- Renal Diseases and Glomerulopathies
- Biomedical Research and Pathophysiology
- Electrolyte and hormonal disorders
- Complement system in diseases
- Neonatal Health and Biochemistry
- Urological Disorders and Treatments
- Kidney Stones and Urolithiasis Treatments
- Urinary Tract Infections Management
- Dialysis and Renal Disease Management
- Amino Acid Enzymes and Metabolism
- Neuroendocrine regulation and behavior
- Renal Transplantation Outcomes and Treatments
- Diabetes Management and Research
- Pregnancy and Medication Impact
- Hormonal Regulation and Hypertension
- Ion channel regulation and function
- Renal and Vascular Pathologies
- Blood groups and transfusion
- Genetic and Kidney Cyst Diseases
- Medical Imaging and Pathology Studies
- Methemoglobinemia and Tumor Lysis Syndrome
- Genomic variations and chromosomal abnormalities
- Chronic Kidney Disease and Diabetes
Centre Hospitalier Universitaire de Montpellier
2014-2024
Hôpital Arnaud de Villeneuve
2000-2024
Université de Montpellier
2009-2024
Institut de Génomique Fonctionnelle
2009-2021
Laboratoire National de Référence
2020
Centre National de la Recherche Scientifique
2009-2019
Inserm
1998-2019
Hôpital Lapeyronie
2010
Université Paris-Sud
2007
Université du Québec en Outaouais
2000
Mutations in factor H (CFH), I (IF), and membrane cofactor protein (MCP) genes have been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study analyzed the impact of complement mutations on outcome 46 children with aHUS. A total 52% patients had one or two known susceptibility (22, 13, 15% CFH, IF, MCP mutations, respectively; 2% CFH+IF mutations). Age <3 mo at onset seems to be characteristic CFH IF mutation–associated The most severe prognosis was mutation...
The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role for specific regulation of expression in various tissues such as liver, kidney, intestine, and pancreatic islets is involved embryonic development these organs. mutations are known to be responsible maturity-onset diabetes young type 5 associated with renal manifestations. Several observations have suggested that may restricted phenotypes. Eighty children (median age at diagnosis 0.2 yr) cysts, hyperechogenicity,...
Background. Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved NaCl reabsorption the thick ascending limb of Henle's loop. Our aim was study frequency, clinical characteristics and outcome each genetic subtype. Methods. Charts 42 children with KCNJ1 (n = 19), SLC12A1 13) CLCNKB 6) or BSND 4) were retrospectively analysed. The median follow-up 8.3 [0.4–18.0] years. Results. We describe 24 new mutations: 10 KCNJ1, 11...
Aims: To assess associations between parental control or emotional support and current tobacco, alcohol cannabis use among 12–18-year-old students, according to gender family structure (intact family, reconstituted single-parent family). Methods: A cross-sectional survey was conducted in a national representative sample France (2003) of 6-12th grade students (N = 16 532), as part the ESPAD study (European Study Project on Alcohol Other Drugs). The self-administered questionnaire included...
X-linked congenital nephrogenic diabetes insipidus (cNDI) results from inactivating mutations of the human arginine vasopressin (AVP) V2 receptor (hV(2)R). Most these lead to intracellular retention hV(2)R, preventing its interaction with AVP and thereby limiting water reabsorption concentration urine. Because majority cNDI-hV(2)Rs exhibit protein misfolding, molecular chaperones hold promise as therapeutic agents; therefore, we sought identify pharmacochaperones for hV(2)R that also acted...
Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults children, respectively. This study aimed to determine epidemiologic clinical characteristics as well comorbidities among cystinuric patients, focusing on CKD high BP.This retrospective was conducted France, involved 47 adult pediatric nephrology urology centers from April 2010 January 2012. Data were collected 442 patients.Median age at onset symptoms 16.7 (minimum...
Immediate-release cysteamine bitartrate (Cystagon; Mylan Pharmaceuticals, Canonsburg, PA) may prevent or delay kidney transplantation and other serious outcomes in patients with cystinosis, but has never been subjected to a prospective clinical trial. Cystagon efficacy requires strict lifelong dosing every 6 hours. Such schedule Cystagon-associated side effects are often cited by as reasons for nonadherence.This open-label, randomized, controlled, crossover trial was powered show that new...
A cross-sectional study was performed to assess quality of life (QoL) after kidney or liver transplantation during childhood. Self-questionnaires explored children, adolescent and parent QoL. Seventy-five transplant 36 adolescents, 67 mothers, 34 fathers caregivers filled out the questionnaires; they were compared with a reference population. Children reported rather good QoL, but their extra-family involvement appeared not as satisfactory that population children. Adolescents very high QoL...
The substitution, in the human V 2 vasopressin receptor, of aspartate at position 136 by alanine leads to agonist‐independent activation this mutant receptor. Pharmacological studies D136A receptor helped us characterizing different antagonists. SR‐121463A and OPC‐31260, two non‐peptide antagonists, behaved as inverse agonists, while cyclic peptides d(CH ) 5 [ d ‐Tyr(Et) ,Val 4 ,Tyr‐NH 9 ]AVP ‐Ile ,Ile known be demonstrated clear partial agonist properties. finding a constitutively activated...
OBJECTIVE. We report a prospective, randomized, multicenter trial that compared the effect of 3 vs 8 days intravenous ceftriaxone treatment on incidence renal scarring at 6 to 9 months follow-up in 383 children with first episode acute pyelonephritis. METHODS. After initial netilmicin and ceftriaxone, patients were randomly assigned either 5 oral antibiotics (short treatment) or (long treatment). Inclusion criteria age 16 years pyelonephritis episode, defined by fever &gt;38.5°C,...
17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary renal disorders are only very rarely reported have Interestingly, however, when tested, patients found deletion. This brings into question the extent which genuinely associated severe neuropsychological in patients. In this study, we sought confirm kidney initially evaluate these compared those point...
To determine the long-term effects of delayed-release cysteamine bitartrate (DR-CYS) based on our previous work that established short-term noninferiority DR-CYS every 12 hours compared with immediate-release 6 hours.We conducted a prospective, controlled, open label, single-arm study for 2 years in 40 patients to assess efficacy depletion cystine peripheral white blood cells, dose required maintain cell content <1 nmol ½ cystine/mg protein, measure quality life using Pediatric Quality Life...
Background and objectives Therapeutic drug monitoring of mycophenolic acid can improve clinical outcome in organ transplantation lupus, but data are scarce idiopathic nephrotic syndrome. The aim our study was to investigate whether pharmacokinetics associated with disease control children receiving mycophenolate mofetil for the treatment steroid–dependent Design, setting, participants, & measurements This a retrospective multicenter including 95 syndrome treated or without steroids. Area...
To evaluate medical treatments, in terms of adverse events (AEs) and therapeutic goals, a large series patients with cystinuria.Data from 442 cystinuria were recorded retrospectively. Crystalluria was studied 89 patients. A mixed-effects logistic regression model used to estimate how urine pH, specific gravity cysteine-binding thiols (CBT) correlate risk cystine crystalluria.Alkalizing agents CBT given 88.8% (n = 381) 55.3% 238) patients, respectively. Gastrointestinal AEs reported 12.3%,...
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) &!ndash;related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause SIOD. However, among 72 patients from different...
Background. It has been demonstrated that alkylating agents such as cyclophosphamide (CYP) are effective in reducing the risk of relapse frequently relapsing (FRNS) and steroid-dependent nephrotic syndrome (SDNS). Little is known about prognostic factors SDNS FRNS treated by CYP. The objectives this study to determine long-term outcomes associated with sustained remission these patients. Methods. We retrospectively studied data from 143 children (104 boys) CYP six centres over 15 years....
Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management PUV is prenatal prediction postnatal function. Fetal ultrasound and fetal urine biochemistry are currently employed this prediction, but clearly lack precision. We previously developed a peptide signature that predicted utero with high precision function fetuses PUV. describe here objectives design prospective international multicentre ANTENATAL (multicentre validation...
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), the X-linked disease resulting from activating mutation vasopressin V2 receptor gene (AVPR2), is a recently described condition causative episodes hyponatremia in boys and male female adults.The objective study was pathophysiological characterization NSIAD.A family with NSIAD identified investigated for hyponatremic degrees urine dilution defects. For first time, impact mutated V2R on aquaporin 2 (AQP2) excretion reported.The...