A5043841949- Kidney Stones and Urolithiasis Treatments
- Pediatric Urology and Nephrology Studies
- Biomedical Research and Pathophysiology
- Renal Transplantation Outcomes and Treatments
- Organ Donation and Transplantation
- Dialysis and Renal Disease Management
- Organ Transplantation Techniques and Outcomes
- Renal Diseases and Glomerulopathies
- Porphyrin Metabolism and Disorders
- Parathyroid Disorders and Treatments
- Pharmacological Effects and Toxicity Studies
- Neonatal Health and Biochemistry
- Urological Disorders and Treatments
- Metabolism and Genetic Disorders
- Renal and related cancers
- Pregnancy and Medication Impact
- Chronic Kidney Disease and Diabetes
- Childhood Cancer Survivors' Quality of Life
- Genetic and Kidney Cyst Diseases
- Urinary Bladder and Prostate Research
- Renal and Vascular Pathologies
- Electrolyte and hormonal disorders
- Systemic Lupus Erythematosus Research
- Adolescent and Pediatric Healthcare
- Immunodeficiency and Autoimmune Disorders
Santé Publique France
2024
Université Claude Bernard Lyon 1
2014-2023
Hospices Civils de Lyon
2014-2023
Inserm
2009-2023
Hôpital Femme Mère Enfant
2014-2023
Université Paris Cité
2023
Institut des Maladies Génétiques Imagine
2023
Centre National de la Recherche Scientifique
2011-2020
Biologie Tissulaire et Ingénierie Thérapeutique
2015-2020
Université de Lyon
2008-2020
The bone mineral density (BMD) of the lumbar spine (L1-L4) was measured by dual energy x-ray absorptiom-etry (Hologic QDR 1000) in 135 healthy Caucasian children, aged 1–15 yr, and values were correlated with age, height, weight, body surface, pubertal status, calcium intake, vitamin D supplementation, serum gla protein. BMD increased age children both sexes (r = 0.88; P < 0.001) from 0.446 ± 0.048 g/cm2 at 1 yr to 0.625 0.068 10 0.891 0.123 15 age. increase steeper time puberty, reaching...
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 NPHS2 accounting for part of cases. We recently delineated a new autosomal recessive entity comprising CNS diffuse mesangial sclerosis distinct ocular anomalies microcoria as the leading clinical feature (Pierson syndrome). On basis homozygosity mapping to markers on chromosome 3p14-p22, we identified homozygous or compound heterozygous LAMB2 patients from five unrelated families....
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that leads to kidney stones, nephrocalcinosis, failure, and systemic oxalosis. Lumasiran, an investigational RNA interference (RNAi) therapeutic agent, reduces production targeting glycolate oxidase.
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by deficiency the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion oxalate, causing recurrent urolithiasis nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading systemic oxalosis. diagnosis based on clinical sonographic findings, urine...
The European Best Practice Guideline group (EBPG) issued guidelines on the evaluation and selection of kidney donor transplant candidates, as well post-transplant recipient care, in year 2000 2002. new Renal board decided 2009 that these needed updating. In order to avoid duplication efforts with disease improving global outcomes, which published clinical practice care recipients, we did not address issues present guidelines. guideline was developed following a rigorous methodological...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It most common cause of inherited renal Fanconi syndrome young children. Because its rarity, diagnosis and specific treatment cystinosis are frequently delayed, has significant impact on overall prognosis. In this document, we have summarized expert opinions several aspects disease to improve knowledge provide guidance treatment.
This European Community Biomedicine and Health Research-supported, multicenter, randomized, placebo-controlled, double-blind trial investigated the effect of an angiotensin-converting enzyme inhibitor (ACE-I) in children young people with IgA nephropathy (IgAN), moderate proteinuria (>1 <3.5 g/d per 1.73 m(2)) creatinine clearance (CrCl) >50 ml/min m(2). Sixty-six patients who were 20.5 yr age (range 9 to 35 yr), randomly assigned Benazepril 0.2 mg/kg d or placebo followed for a median 38...
Objective Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that assumed to occur via complex interplay of environmental and genetic factors. Rare causes monogenic SLE have been described, providing unique insights into fundamental mechanisms immune tolerance. The aim this study was identify the cause an autosomal‐recessive form SLE. Methods We studied 3 siblings with juvenile‐onset from 1 consanguineous kindred used next‐generation sequencing mutations in...
Minimizing steroid exposure in pediatric renal transplant recipients can improve linear growth and reduce metabolic disorders. This randomized multicenter study investigated the impact of early withdrawal on mean change height standard deviation score (SDS) safety efficacy two immunosuppressive regimens during first 6 months after transplantation. Children received tacrolimus, MMF, doses daclizumab steroids until day 4 (TAC/MMF/DAC, n = 98) or MMF standard-dose (TAC/MMF/STR, 98). Mean SDS...
The aim of this study was to develop a population pharmacokinetic model tacrolimus in pediatric kidney transplant patients, identify factors that explain variability, and determine dosage regimens. Pharmacokinetic samples were collected from 50 de novo patients (age 2–18 years) who on treatment. Population analysis performed using NONMEM, the impact variables (demographic clinical factors, CYP3A4–A5, ABCB1, ABCC2 polymorphisms) tested. data described by two–compartment incorporated...
Primary hyperoxaluria (PH) as a cause of ESRD in children is believed to have poor outcomes. Data on management and outcomes these remain scarce.This study included patients aged <19 years who started renal replacement therapy (RRT) between 1979 2009 from 31 countries providing data large European registry.Of 9247 incident receiving RRT, 100 had PH. PH were significantly younger than non-PH at the start RRT. The median age RRT decreased 9.8 1979-1989 1.5 2000-2009. Survival was 86%, 79%, 76%...
A new estimated glomerular filtration rate (eGFR) equation, designed for isotope dilution mass spectrometry-standardized serum creatinine (Scr), is presented use in children, adolescent boys and girls young adults.The eGFR = 107.3/(Scr/Q), based on the concept of normalized Scr: Q normalization value considered as Scr concentration average healthy child, or adult a specific height (L) modeled height-dependent polynomial fourth degree.The well-known Schwartz equation [eGFR kL/Scr, k 0.413...
Estimation of GFR in children is challenging; reference methods are cumbersome, and formulas have limitations. The aims this study were to evaluate (1) the new creatinine-based formula recently proposed by Schwartz using a kinetic colorimetric compensated Jaffe technique; (2) some cystatin C-derived (Hoek, Le Bricon, Larsson, Rule, Filler, Zappitelli) nephelemetric (3) combined both creatinine (Zappitelli Bouvet).These evaluated cross-sectional cohort 252 with moderate CKD or normal GFR,...
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified approximately half of individuals with classic findings hypoplasia/dysplasia abnormalities optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing extent genetic variation PAX2 gene phenotypic syndrome. Review published cases collective...