Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation

• Published in: Pediatrics international Vol. 57; no. 1; pp. 177 - 179
• Main Authors: Uysal, Berfin, Dönmez, Osman, Uysal, Fahrettin, Akacı, Okan, Vuruşkan, Berna Aytaç, Berdeli, Afig
• Format: Journal Article
• Language: English
• Published: Australia Blackwell Publishing Ltd 01-02-2015
• Subjects: Abnormalities, Multiple; Biopsy; Cardiovascular disease; Congenital diseases; congenital nephrotic syndrome; DNA - genetics; DNA Mutational Analysis; Echocardiography; end‐stage renal disease; Female; Genotype; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart Defects, Congenital - metabolism; Humans; Infant, Newborn; Kidney - pathology; major cardiac malformation; Medical research; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mutation; Nephrotic Syndrome - diagnosis; Nephrotic Syndrome - genetics; Nephrotic Syndrome - metabolism; NPHS1; Pediatrics; Phenotype; Polymerase Chain Reaction; transplantation; major cardiac malformation; congenital nephrotic syndrome; NPHS1; end-stage renal disease; transplantation
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.12418

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.