title: Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
abstract: Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.
authors.affiliation: Department of Pediatric Nephrology, University of Uludag, Bursa.
authors.forename: Berfin
authors.initials: B
authors.lastname: Uysal
authors.forename: Osman
authors.initials: O
authors.lastname: Dönmez
authors.forename: Fahrettin
authors.initials: F
authors.lastname: Uysal
authors.forename: Okan
authors.initials: O
authors.lastname: Akacı
authors.forename: Berna Aytaç
authors.initials: BA
authors.lastname: Vuruşkan
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
mesh_terms: D000015:Abnormalities, Multiple; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005260:Female; D005838:Genotype; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D008565:Membrane Proteins; C113267:nephrin; D004247:DNA
keywords: NPHS1; congenital nephrotic syndrome; end-stage renal disease; major cardiac malformation; transplantation