Diagnostic tests for primary renal hypouricemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9900" target="_blank" >RIV/00216208:11110/11:9900 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/11:9900
Result on the web
<a href="http://dx.doi.org/10.1080/15257770.2011.611483" target="_blank" >http://dx.doi.org/10.1080/15257770.2011.611483</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Diagnostic tests for primary renal hypouricemia
Original language description
Primary renal hypouricemia is a genetic disorder characterized by defective renal uric acid (UA) reabsorption with complications such as nephrolithiasis and exercise-induced acute renal failure. The known causes are: defects in the SLC22A12 gene, encoding the human urate transporter 1 (hURAT1), and also impairment of voltage urate transporter (URATv1), encoded by SLC2A9 (GLUT9) gene. Diagnosis is based on hypouricemia (< 119 mu mol/L) and increased fractional excretion of UA (> 10%). To date, the caseswith mutations in hURAT1 gene have been reported in East Asia only. More than 100 Japanese patients have been described. Hypouricemia is sometimes overlooked; therefore, we have set up the flowchart for this disorder. The patients were selected for molecular analysis from 620 Czech hypouricemic patients. Secondary causes of hyperuricosuric hypouricemia were excluded. The estimations of (1) serum UA, (2) excretion fraction of UA, and (3) analysis of hURAT1 and URATv1 genes follow. Three t
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nucleosides Nucleotides & Nucleic Acids
ISSN
1525-7770
e-ISSN
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Volume of the periodical
30
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
1112-1116
UT code for WoS article
000298738500017
EID of the result in the Scopus database
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