Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations.
نویسندگان
چکیده
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].
منابع مشابه
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
BACKGROUND Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal-dominant disorder featuring hyperuricaemia, low fractional urate excretion, interstitial nephritis and chronic renal failure. The responsible gene UMOD was recently identified. UMOD encodes for uromodulin or Tamm-Horsfall glycoprotein, the most abundant protein in normal urine. We encountered a family with FJHN and i...
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Familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder, is caused by mutations in the UMOD gene, which encodes Uromodulin, a glycosylphosphatidylinositol-anchored protein that is expressed in the thick ascending limb of the loop of Henle and excreted in the urine. Uromodulin contains three epidermal growth factor (EGF)-like domains, a cysteine-rich region which incl...
متن کاملFamilial juvenile hyperuricaemic nephropathy.
Sir, In their letter to the Editor, Drs Bleyer and Hart raised several aspects concerning familial juvenile hyperuricaemic nephropathy (FJHN). First, they state that in QJM letter of February 2003, we wrote that ‘ . . . an unresolved aspect of FJHN is the gene defect’, despite their having reported a mutation in the uromodulin gene (UMOD, the gene encoding the Tamm-Horsfall/uromodulin protein) ...
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ورودعنوان ژورنال:
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
دوره 17 7 شماره
صفحات -
تاریخ انتشار 2002