congenital nephrotic syndrome, finnish type
Friday 20 April 2012
nephrotic syndrome finnish type; FINNISH CONGENITAL NEPHROSIS; CNF
NEPHROTIC SYNDROME, CONGENITAL; NPHS
The nephrotic syndrome type 1 (NPHS1), also known as "Finnish congenital nephrosis", is caused by homozygous or compound heterozygous mutation in the gene encoding nephrin (NPHS1; MIM.602716) on chromosome 19q13.1.
The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation.
Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.
Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure.
Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases.
- NPHS2 (MIM.600995), caused by mutation in the podocin gene (MIM.604766);
- NPHS3 (MIM.610725), caused by mutation in the PLCE1 gene (MIM.608414);
- NPHS4 (MIM.256370), caused by mutation in the WT1 gene (MIM.607102);
- NPHS5 (MIM.614199), caused by mutation in the LAMB2 gene (MIM.150325);
- NPHS6 (MIM.614196), caused by mutation in the PTPRO gene (MIM.600579).
- FSGS1 (MIM.603278) is caused by mutation in the ACTN4 gene (MIM.604638).
- FSGS2 (MIM.603965) by mutation in the TRPC6 gene (MIM.603652).
- FSGS3 (MIM.607832) is associated with variation in the CD2AP gene (MIM.604241).
- FSGS4 (MIM.612551) has been mapped to chromosome 22q12, and FSGS5 (MIM.613237) is caused by mutation in the INF2 gene (MIM.610982).