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Clinical and Functional Characterization of URAT1 Variants

Lookup NU author(s): Dr Ann Marie Hynes, Professor John Sayer

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Abstract

Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia. Patients may be asymptomatic, but the persistent urinary abnormalities may manifest as renal stone disease, and hypouricaemia may manifest as exercise induced acute kidney injury. Here we have identified Macedonian and British patients with hypouricaemia, who presented with a variety of renal symptoms and signs including renal stone disease, hematuria, pyelonephritis and nephrocalcinosis. We have identified heterozygous missense mutations in SLC22A12 encoding the urate transporter protein URAT1 and correlate these genetic findings with functional characterization. Urate handling was determined using uptake experiments in HEK293 cells. This data highlights the importance of the URAT1 renal urate transporter in determining serum urate concentrations and the clinical phenotypes, including nephrolithiasis, that should prompt the clinician to suspect an inherited form of renal hypouricaemia.


Publication metadata

Author(s): Tasic V, Hynes AM, Kitamura K, Il Cheong H, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA

Publication type: Article

Publication status: Published

Journal: PLoS One

Year: 2011

Volume: 6

Issue: 12

Print publication date: 01/12/2011

Date deposited: 02/05/2012

ISSN (electronic): 1932-6203

Publisher: Public Library of Science

URL: http://dx.doi.org/10.1371/journal.pone.0028641

DOI: 10.1371/journal.pone.0028641


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