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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

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

  • Czech description

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

Result continuities

  • Project

  • 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

  • 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