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Nephrol Dial Transplant (2002) 17: 1333-1335
© 2002 European Renal Association-European Dialysis and Transplant Association

Case Report

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

Peter Kotanko, Eva Gebetsroither and Falko Skrabal

Department of Internal Medicine, Krankenhaus der Barmherzigen Brüder, Graz, Austria

The first 10% of the full text of this article appears below.



   Introduction
 
Familial juvenile hyperuricaemic nephropathy (FJHN; OMIM 162000) is considered a rare cause of end-stage 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].



   Case
 
We report a Caucasian four-generation family with FJHN without consanguinity between spouses and a clustering of . . . [Full Text of this Article]



   Discussion
 

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