[Familial juvenile hyperuricemic nephropathy (FJHN)].
Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disease characterized by hyperuricemia of underexcretion type, gout, and chronic renal failure. Recent discovery of uromodulin mutations as a cause of FJHN and MCKD2 led a new concept, i.e. uromodulin-associated kidney disease (UAKD). The genotype-phenotype correlation and genetic heterogeneity of FJHN are reviewed.
Kudo
Eiji
E
'Department of Human Pathology, Institute of Health Biosciences, University of Tokushima Graduate School.
Itakura
Mitsuo
M
D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D006073:Gout / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics*; D009088:Mucoproteins / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D058949:Uromodulin
D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin