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Article

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

BMC medical genetics - 7 Jan 2014

Jeannin Guido, Chiarelli Nicola, Gaggiotti Mario, Ritelli Marco, Maiorca Paolo, Quinzani Stefano, Verzeletti Federica, Possenti Stefano, Colombi Marina, Cancarini Giovanni

Abstract excerpt

BACKGROUND: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis. Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type 1 (RHUC1), whereas renal hypouricemia type 2 (RHUC2) is caused by mutations in the SLC2A9 gene. CASE PRESENTATION:...

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PMID: 24397858
DOI: 10.1186/1471-2350-15-3
PMCID: PMC3890613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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