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Article

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.

Annals of laboratory medicine - 1 Jul 2013

Lee Mi-Na, Jun Ji-Eun, Kwon Ghee Young, Huh Woo-Seong, Ki Chang-Seok

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thickening and glomerulosclerosis resulting from fibrosis, starts in early life. In most cases of FJHN, uromodulin gene...

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Source

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Identifiers

PMID: 23826568
DOI: 10.3343/alm.2013.33.4.293
PMCID: PMC3698310

Genes

UMOD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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