A5000773771- Renal Diseases and Glomerulopathies
- Renal Transplantation Outcomes and Treatments
- Biomedical Research and Pathophysiology
- Pregnancy and Medication Impact
- Organ Transplantation Techniques and Outcomes
- Renal and Vascular Pathologies
- Neonatal Health and Biochemistry
- Complement system in diseases
- Genetic and Kidney Cyst Diseases
- Organ Donation and Transplantation
- Dialysis and Renal Disease Management
- Pediatric Urology and Nephrology Studies
- Cytomegalovirus and herpesvirus research
- Pharmacological Effects and Toxicity Studies
- Nitric Oxide and Endothelin Effects
- Viral-associated cancers and disorders
- Amino Acid Enzymes and Metabolism
- Adolescent and Pediatric Healthcare
- Renal and related cancers
- Blood groups and transfusion
- Birth, Development, and Health
- Parathyroid Disorders and Treatments
- Renal function and acid-base balance
- Vitamin D Research Studies
- Ion Transport and Channel Regulation
Hôpital Necker-Enfants Malades
2015-2024
Université Paris Cité
2011-2024
Assistance Publique – Hôpitaux de Paris
2013-2023
Institut Necker Enfants Malades
1993-2023
Inserm
1995-2023
Institut des Maladies Génétiques Imagine
2020-2023
KU Leuven
2019
University of Florida
2018
Columbus Oncology and Hematology Associates
2018
Johns Hopkins University
2018
Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney size, and disorganized renal tissue. A hereditary basis has been established for subset of affected patients, suggesting major role developmental genes that are involved in early organogenesis. Gene mutations have dominant inheritance cause RHD, urinary tract anomalies, defined extrarenal symptoms identified TCF2 (renal cysts diabetes syndrome), PAX2 (renal-coloboma EYA1 SIX1 (branchio-oto-renal SALL1...
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement limit misrepresentation of self acids non-self and induction autoinflammation. By systematic screening using panel interferon-stimulated genes we identify two siblings singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy increased anti-DNA antibodies. In both families biallelic mutations in DNASE2,...
Neurologic involvement is the most threatening complication of diarrhea-associated hemolytic uremic syndrome (D+HUS).We report a retrospective multicenter series 52 patients with severe initial neurologic that occurred in course D+HUS.Verotoxigenic Escherichia coli infection was documented 24. All except two had acute renal failure required peritoneal dialysis, hemodialysis, or both techniques. A first group eight remained normal consciousness; five them protracted seizures. second 23...
Abstract N 6 -threonyl-carbamoylation of adenosine 37 ANN-type tRNAs (t A) is a universal modification essential for translational accuracy and efficiency. The t A pathway uses two sequentially acting enzymes, YRDC OSGEP, the latter being subunit multiprotein KEOPS complex. We recently identified mutations in genes encoding four out five subunits children with Galloway-Mowat syndrome (GAMOS), clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant...
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to worldwide largest cohorts patients with NPH, analysis encompassing targeted whole exome sequencing identified disease-causing variants 600 from 496 families detection rate 71%. Of 788 pathogenic variants, 40 known genes were identified. However, majority (53%) bore biallelic NPHP1....
There are few data concerning the social outcome at adult age of children who received a kidney transplant. The aim this study was to collect information on in cohort 366 underwent transplantation between 1973 and 1985.Information obtained through simple questionnaire 244 patients. mean patients 31.7 years, they had undergone grafting 11.9 years.As December 2000 or last visit, 77% functioning graft. height 156.6 cm for male 147.4 female distribution educational level lower than national...
Classically, infants with mutations in NPHS1, which encodes nephrin, present nephrotic syndrome within the first 3 mo of life (congenital Finnish-type), and children NPHS2, podocin, later steroid-resistant syndrome. Recently, however, NPHS2 have been identified congenital Whether NPHS1 similarly account for some cases childhood is unknown. In this study, 160 patients who belonged to 142 unrelated families presented at least after birth were screened variants once had excluded. Compound...
Summary Background and objectives Left ventricular hypertrophy (LVH) abnormal systolic function are present in a high proportion of children with CKD. This study evaluated changes left (LV) geometry mild to moderate CKD as an ancillary project the Effect Strict Blood Pressure Control ACE Inhibition on Progression Chronic Renal Failure Pediatric Patients trial. Design, setting, participants, & measurements Echocardiograms ambulatory BP monitoring were performed at baseline 1- or 2-year...
We report the first observation of successful kidney transplantation under pre-emptive eculizumab treatment in a 7-year-old boy with atypical hemolytic uremic syndrome (aHUS) and known hybrid CFH/CFHR1 gene, who was dependent on plasma therapy during 3-year dialysis period. The protein has an altered C3b/C3d binding, is incapable to protect cells from complement attack directly implicated aHUS pathogenesis. There no evidence recurrence 16-month follow-up conclude that alone, without (plasma...
Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, vitamin D may also promote renoprotection by suppressing renin transcription through cross-talk between RAAS and D-fibroblast growth factor-23 (FGF-23)-Klotho pathways. To determine whether levels influence proteinuria progression in children, we performed a post hoc analysis of the Effect Strict Blood Pressure Control ACE Inhibition on...
Introduction. Recurrence of nephrotic-range proteinuria in patients with idiopathic nephrotic syndrome (INS) and focal segmental glomerulosclerosis (FSGS) on native kidneys is associated poor graft survival. Identification risk factors for recurrence therefore an important issue. In 2004, Columbia University introduced a histological classification FSGS that identifies five mutually exclusive variants. non-transplant patients, the appears to predict outcome response treatment better than...
BackgroundChildren have a low rate of COVID-19 and secondary severe multisystem inflammatory syndrome (MIS) but present high prevalence symptomatic seasonal coronavirus infections.AimWe tested if prior infections by coronaviruses (HCoV) NL63, HKU1, 229E or OC43 as assessed serology, provide cross-protective immunity against SARS-CoV-2 infection.MethodsWe set cross-sectional observational multicentric study in pauci- asymptomatic children hospitalised Paris during the first wave for reasons...
Background Casual office blood pressure (CBP) measurements are still standard in antihypertensive drug trials. In pediatric hypertensive trials, ethical considerations, very low disease prevalence and the marked impact of white-coat hypertension create need for sensitive reproducible techniques BP assessment. We hypothesized that ambulatory monitoring (ABPM) may identify treatment effects more sensitively than CBP thereby reduce sample sizes required Methods Standard deviations (SDs) were...