nephrin and Abnormalities--Multiple

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.

Topics: Abnormalities, Multiple; Biopsy; DNA; DNA Mutational Analysis; Echocardiography; Female; Genotype; Heart Defects, Congenital; Humans; Infant, Newborn; Kidney; Membrane Proteins; Mutation; Nephrotic Syndrome; Phenotype; Polymerase Chain Reaction