Hyperuricemic nephropathy, familial juvenile 2
Familial juvenile hyperuricemic nephropathy 2 is an autosomal dominant disorder caused by mutations of the REN gene. The predominant clinical features are anemia and hyperuricemia. The latter accounts for gout and nephropathy with progressive renal failure.
The patients usually resents with gout, anemia, or progressive renal failure. Often there is a striking family history of such disorders. The clinical diagnosis can be made based on laboratory findings of hyperuricemia and reduced fractional clearance of uric acid. The diagnosis can be proved by molecular genetic methods. Molecular genetic diagnosis and fractional clearance of uric acid are the only methods practicable to identify asymptomatic family members.
The progression of renal can be significantly reduced by allupurinol. Early therapy is mandatory.
|Hyperuricemic nephropathy, familial juvenile 1|
|Hyperuricemic nephropathy, familial juvenile 2|
Stibůrková B et al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.[^]
Zivná M et al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.[^]
Hodanová K et al. (2005) Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.[^]
OMIM.ORG articleOmim 613092 [^]