Familial hyperuricaemic nephropathy: New mutation in uromodulin gen
نویسندگان
چکیده
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...
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) ...
متن کاملUromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
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 کاملOutcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy.
Familial juvenile hyperuricaemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD) are rare autosomal-dominant disorders, both characterized by early hyperuricaemia due to reduced urinary excretion of urate and the development of chronic interstitial nephropathy, most often leading to end-stage renal failure (ESRF) in adulthood. Although a history of gout is more frequently reported...
متن کاملA Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. We here described a novel heterozygous missense m...
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ژورنال
عنوان ژورنال: Nefrología (English Edition)
سال: 2019
ISSN: 2013-2514
DOI: 10.1016/j.nefroe.2018.09.004