familial juvenile hyperuricemic nephropathy

familial juvenile hyperuricemic nephropathy
autosomal dominant nephropathy of juvenile onset, with hyperuricemia that may cause gout, decreased glomerular filtration, hypertension, and eventual renal failure. It can be caused by mutation in the UMOD gene (locus: 16p12.3), which encodes Tamm-Horsfall protein (also called uromodulin) or can be caused by mutation in the REN gene (locus: 1q32), which encodes the enzyme renin.

Medical dictionary. 2011.

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