hyperuricaemic nephropathy, familial juvenile 1

(redirected from familial juvenile hyperuricaemic nephropathy)

hyperuricaemic nephropathy, familial juvenile 1

An autosomal dominant renal disorder (OMIM:162000) characterised by juvenile onset of hyperuricaemia, polyuria, progressive renal failure, gout and fibrosis of the renal interstitium.

Molecular pathology
Caused by defects of UMOD, which encodes uromodulin, the most abundant protein in urine.
References in periodicals archive ?
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
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