title: Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
abstract: The aim of the study was to present our experience in treating children with genetic forms of nephrotic syndrome and diagnosing these diseases. We retrospectively reviewed the clinical data, mutational analyses, histopathological features, treatment modalities, and outcome of 26 consecutive children (20 families) suffering from congenital and/or steroid-resistant nephrotic syndrome who were assessed by genetic analysis. Ten out of 26 children (38%) had congenital nephrotic syndrome, 4/26 (15%) had infantile nephrotic syndrome, 10/26 (38%) had late-onset nephrotic syndrome, and 2/26 (9%) had asymptomatic proteinuria. We detected a mutation in 21/26 (81%) patients and in 15/20 (75%) families. NPHS1 mutation analyses were positive in 4/20 (20%), NPHS2 mutations in 4/20 (20%), WT1 mutations in 4/20 (20%), and PLCE1 mutations in 3/20 (15%) families. NPHS1 and PLCE1 mutations were solely found in patients with the earliest onset. The majority of patients, especially those with early onset of nephrotic syndrome, had serious adverse events related to the nephrotic status, and 19/26 (73%) reached end-stage renal failure at a median age of 27 months. Genetic forms of nephrotic syndrome comprise a heterogeneous group of genetic mutations. The progression toward end-stage renal failure is the rule but is highly variable between patients.
authors: Department of Pediatric Nephrology, Hôpital Universitaire des Enfants - Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium. khalid.ismaili@huderf.be
authors: Khalid
authors: K
authors: Ismaili
authors: Audrey
authors: A
authors: Pawtowski
authors: Olivia
authors: O
authors: Boyer
authors: Karl Martin
authors: KM
authors: Wissing
authors: Françoise
authors: F
authors: Janssen
authors: Michelle
authors: M
authors: Hall
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001530:Belgium; D002648:Child; D002675:Child, Preschool; D030321:Denys-Drash Syndrome / Q000235:genetics; D005260:Female; D052159:Frasier Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007680:Kidney Neoplasms / Q000151:congenital / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000151:congenital / Q000235:genetics*; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D011507:Proteinuria / Q000151:congenital / Q000235:genetics; D012189:Retrospective Studies; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D025721:WT1 Proteins; C113267:nephrin; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon