Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations.

Familial juvenile hyperuricaemic nephropathy (FJHN; OMIM 162000) is considered a rare cause of endstage renal disease (ESRD). FJHN is characterized by hyperuricaemia and gout after adolescence and the slow development of renal insufficiency, leading to ESRD in adulthood. The disorder is characterized by a renal under-secretion of urate, which may be detected already during early childhood [1]. The histological lesions in affected subjects are characterized by unspecific tubulo-interstitial nephropathy. FJHN is inherited in an autosomal dominant pattern with a high penetrance. Recently, the gene(s) for FJHN was localized to a candidate interval at the short arm of chromosome 16 [2,3].