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Nephrotic syndrome, type 1 (CNF)

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Summary

Nephrotic syndrome, type 1 (CNF), also known as Finnish congenital nephrosis, is a classic Finnish inherited recessive disease, being the first monogenic entity found to be enriched in the Finnish population. This nephrotic syndrome of newborns is known to be due to a deficiency of nephrine, a transmembrane podocyte adhesion molecule at the glomerular slit diaphragm. Nephrine is encoded by the NPHS1 gene [Nephrosis 1, congenital, Finnish type (nephrin)] on chromosome 19q13. Proteinuria begins in utero, causing elevated levels of alpha-fetoprotein in amniotic fluid. The disease is detected soon after delivery of a baby with a large placenta. Proteinuria, ascites, edema, and hypoproteinemia are the main findings; causing to failure to thrive and susceptibility to infections. The nephrotic manifestations are resistant to conventional drug therapy and without renal transplantation the patients succumb during the first two years of life. Currently patients are succesfully treated with renal transplantation preceded by protein and nutritional support, bilateral nephrectomy, and dialysis. In a few cases the renal grafts have developed proteinuria and nephrotic changes. Characteristic clinical findings, including histological changes in a renal biopsy, confirm the diagnosis. Gene tests for the founder and other mutations in the NPHS1 gene are available. Prenatal diagnosis can be made either with the mutation test or with assays of alfafetoprotein in maternal serum/amniotic fluid. However, it should be noticed that AFP values can be misleadingly high in pregnancies of healthy carriers.

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UMLS Concept names

Selected publications

  • Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Kestilä M1, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K. PMID: 9660941 (Pubmed)