Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation

• DOI: 10.1111/ped.12418
• Publication Date: 2015-02-25T06:13:30Z
• Authors: Berfin Uysal; Osman Dönmez; Fahrettin Uysal; Okan Akacı; Berna Aytaç Vuruşkan; Afig Berdeli
• Keywords: Heart Defects, Congenital; 0301 basic medicine; end-stage renal disease; Nephrotic Syndrome; Genotype; NPHS1; Biopsy; congenital nephrotic syndrome; DNA Mutational Analysis; Infant, Newborn; Membrane Proteins; DNA; Kidney; Polymerase Chain Reaction; 3. Good health; major cardiac malformation; 03 medical and health sciences; Phenotype; Echocardiography; Mutation; Humans; Abnormalities, Multiple; Female; transplantation

AbstractCongenital 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.