Genetic background of uric acid metabolism in patient with severe chronic tophaceous gout
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F16%3AN0000034" target="_blank" >RIV/00023728:_____/16:N0000034 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1016/j.cca.2016.06.007" target="_blank" >https://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>
Alternative languages
Result language
angličtina
Original language name
Genetic background of uric acid metabolism in 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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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30226 - Rheumatology
Result continuities
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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinica Chimica acta 2016, 460, s. 46-49
ISSN
0009-8981
e-ISSN
1873-3492
Volume of the periodical
460
Issue of the periodical within the volume
2016
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