NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
Victor A. McKusick, OMIM, Johns Hopkins University, March 13, 2009
[for Professionals mainly]
Alternative titles; symbols
NEPHROTIC SYNDROME, TYPE 1
FINNISH CONGENITAL NEPHROSIS; CNF
Gene map locus 19q13.1
... congenital nephrosis shows itself in the first days or weeks of life. Furthermore, the familial occurrence including parental consanguinity is that of an autosomal recessive trait
... clinical, chemical, and pathologic features are identical with those of the idiopathic condition ... relatively high frequency in Finland ... Nephrosis of later onset is occasionally familial but not necessarily mendelian ...
Congenital nephrotic syndrome
Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body ... very rare form of nephrotic syndrome ... It can often lead to death by 5 years of age ... massive fluid retention and generalized swelling ...
Last Updated: 2009/8/21