Congenital Nephrotic Syndrome Finnish Type
Type of disease: Rare conditions
Congenital nephrotic syndrome of Finnish type is a genetic condition of the kidney that presents in utero or within the first three months of life. The syndrome is characterized by nephrotic syndrome (a group of symptoms including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling), which progresses rapidly to end-stage kidney disease. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome of Finnish type has been reported worldwide. Congenital nephrotic syndrome of Finnish type is inherited in an autosomal recessive fashion and is caused by mutations in a gene called NPHS1. At this time, kidney transplantation seems to be the only treatment available for this condition. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.