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Article

Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2006

Puig J G, Prior C, Martínez-Ara J, Torres R J

Abstract excerpt

Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified. All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. The...

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Source

Identifiers

PMID: 17065110
DOI: 10.1080/15257770600894766

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17065110-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.PMID 17065110Read ↗

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.Semantic proximity Read ↗

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

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.Semantic proximity Read ↗

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

A Case of UMOD-Associated Nephropathy Mimicking Focal Segmental Glomerulosclerosis in a Young Male with a Positive Family HistorySemantic proximity Read ↗

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

Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene.Semantic proximity Read ↗

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Semantic proximity Read ↗

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