Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10326632" target="_blank" >RIV/00064165:_____/16:10326632 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10326632

Result on the web

<a href="http://dx.doi.org/10.1016/j.cca.2016.06.007" target="_blank" >http://dx.doi.org/10.1016/j.cca.2016.06.007</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.cca.2016.06.007" target="_blank" >10.1016/j.cca.2016.06.007</a>

Result language

angličtina

Original language name

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout

Original language description

Hyperuricemia depends on the balance of endogenous production and renal excretion of uric acid. Transporters for urate are located in the proximal tubule where uric acid is secreted and extensively reabsorbed: secretion is principally ensured by the highly variable ABCG2 gene. Enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) plays a central role in purine metabolism and its deficiency is an X-linked inherited metabolic disorder associated with clinical manifestations of purine overproduction. Here we report the case of a middle-aged man with severe chronic tophaceous gout with a poor response to allopurinol and requiring repeated surgical intervention. We identified the causal mutations in the HPRT1 gene, variant c.481G>T (p.A161S), and in the crucial urate transporter ABCG2, a heterozygous variant c.421C>A (p.Q141K). This case shows the value of an analysis of the genetic background of serum uric acid.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NV15-26693A" target="_blank" >NV15-26693A: Function study of allelic variants of urate transporters in primary hyperuricemia and gout</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinica Chimica Acta

ISSN

0009-8981

e-ISSN

—

Volume of the periodical

460

Issue of the periodical within the volume

September

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

4

Pages from-to

46-49

UT code for WoS article

000382352600008

EID of the result in the Scopus database

2-s2.0-84975801808