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Article

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2016

Venkat-Raman Gopalakrishnan, Gast Christine, Marinaki Anthony, Fairbanks Lynnette

Abstract excerpt

Familial juvenile hyperuricaemic nephropathy (FJHN) is a diagnosis that is easily missed. It has taken a long time to clarify the pathophysiology and prevalence of this disease entity which has been shown to be genetically identical to medullary cystic kidney disease (MCKD) type II. The initial suspicion that uric acid was the noxious agent has been replaced by the recognition that a mutant uromodulin (UMOD) is...

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Identifiers

PMID: 26872483
DOI: 10.1007/s00467-015-3308-y

Genes

UMOD

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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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