Cystic fibrosis patients dating other cystic fibrosis patients
A number sign (#) is used with this entry because 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; 602716) on chromosome 19q13.The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema.Genetic analysis identified compound heterozygosity for missense mutations in the nephrin gene (602716.0016.0009). (1995) described congenital Finnish nephrosis in 2 of 3 successive pregnancies of a nonconsanguineous couple with no known Finnish ancestry.They confirmed the usefulness of amniotic fluid alpha-fetoprotein determination in the prenatal diagnosis, since the fetus loses large amounts of AFP in the urine due to kidney damage. (1984) found that steroids or cytotoxic drugs, alone or in combination, were without benefit in 41 patients with congenital nephrotic syndrome.
An in vitro histochemical technique was used in these studies. (1983) concluded that the basic defect in congenital nephrosis is failure of heparan sulfate-rich anionic sites to develop in the lamina rara externa of the glomerular basement membrane. (2006) stated that Finnish congenital nephrosis is caused by the absence of functional nephrin, which leads to the absence or malfunction of the slit diaphragm and loss of the size-selective slit filter. (1994) assigned the locus for congenital nephrotic syndrome of the Finnish type (symbolized CNF by them) to 19q12-q13.1 on the basis of linkage analyses in 17 Finnish families.
Although 1311084] [Full Text]" pmid="1311084"Dressler and Douglass (1992) had shown in transgenic mice that deregulation of the Pax2 gene (167409) resulted in severe kidney abnormalities resembling those found in patients with Finnish nephrosis, 8188301] [Full Text]" pmid="8188301"Mannikko et al.
(1996) applied haplotype analysis to several non-Finnish CNF families to determine whether the same genetic locus is involved in these families as in Finnish families.
They interpreted this to mean that metabolism of type IV collagen is disturbed in this disorder.
The normal barrier to penetration of the renal glomerular basement membrane by anionic plasma proteins depends in part on the existence of negatively charged sites within the membrane (6621641] [Full Text]" pmid="6621641"Vernier et al.