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Article

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.

Kidney international - 1 Aug 2004

Rezende-Lima Wânia, Parreira Kleber S, García-González Miguel, Riveira Eva, Banet Julio F, Lens Xosé M

Abstract excerpt

BACKGROUND: Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN) are heritable renal diseases with autosomal-dominant transmission and shared features, including polyuria, progressive renal failure, and abnormal urate handling, which leads to hyperuricemia and gout. Mutations of the UMOD gene, disrupting the tertiary structure of uromodulin,...

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Source

Identifiers

PMID: 15253706
DOI: 10.1111/j.1523-1755.2004.00774.x

Genes

UMOD
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.PMID 15253706Read ↗

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