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[Familial juvenile hyperuricemic nephropathy (FJHN)]
1'Department of Human Pathology, Institute of Health Biosciences, University of Tokushima Graduate School.
Abstract:
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.
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