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Article

Childhood course of renal insufficiency in a family with a uromodulin gene mutation.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2010

Schäffer Péter, Gombos Eva, Meichelbeck Krisztina, Kiss András, Hart P Suzanne, Bleyer Anthony J

Abstract excerpt

Mutations in the UMOD gene encoding uromodulin (Tamm-Horsfall glycoprotein) result in the autosomal dominant transmission of progressive renal insufficiency and hypo-uricosuric hyperuricemia leading to gout at an early age. The clinical appearance is characterized by renal insufficiency and gout...

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Source

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Identifiers

PMID: 20151160
DOI: 10.1007/s00467-009-1436-y
PMCID: PMC4264542

Genes

UMOD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20151160-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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