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Article

Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy.

Clinical nephrology - 1 Jan 2009

Lhotta K, Gehringer A, Jennings P, Kronenberg F, Brezinka C, Andersone I, Strazdins V

Abstract excerpt

BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. CASE REPORTS AND RESULTS: A Latvian family suffering from FJHN is described. The father of the family developed ESRD at age 36. His daughter was diagnosed with gout and chronic kidney...

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Source

Identifiers

PMID: 19203555
DOI: 10.5414/cnp71080

Genes

UMOD

Provenance

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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