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Article

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Mar 2018

Lopes L B, Abreu C C, Souza C F, Guimaraes L E R, Silva A A, Aguiar-Alves F, Kidd K O, Kmoch S, Bleyer A J, Almeida J R

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation...

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Identifiers

PMID: 29513881
DOI: 10.1590/1414-431X20176560
PMCID: PMC5912098

Genes

UMOD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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