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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/16:10326632

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

<a href="/cs/project/NV15-26693A" target="_blank" >NV15-26693A: Funkční studie alelických variant urátových transportérů v primární hyperurikémii a dně</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

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

Název periodika

Clinica Chimica Acta

ISSN

0009-8981

e-ISSN

—

Svazek periodika

460

Číslo periodika v rámci svazku

September

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

4

Strana od-do

46-49

Kód UT WoS článku

000382352600008

EID výsledku v databázi Scopus

2-s2.0-84975801808