Genetic Disorders Resulting in Hyper- or Hypouricemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F12%3A13345" target="_blank" >RIV/00064165:_____/12:13345 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/12:13345
Result on the web
<a href="http://dx.doi.org/10.1053/j.ackd.2012.06.002" target="_blank" >http://dx.doi.org/10.1053/j.ackd.2012.06.002</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Genetic Disorders Resulting in Hyper- or Hypouricemia
Original language description
Serum uric acid concentrations are governed by the balance of urate production and excretion. Besides well-known secondary causes of hyperuricemia, such as myeloproliferative diseases, decreased renal function, and excessive dietary purine intake, thereare a number of genetic disorders that result in hyper- or hypouricemia. Renal impairment in these disorders may be associated with the development of chronic kidney disease, acute kidney injury, or urate nephrolithiasis. These conditions are frequentlymisdiagnosed, not because the diagnosis is complicated and difficult to ascertain, but rather because of a lack of awareness of the particular condition. The first important step in the diagnosis is obtaining a detailed family history, with evaluation ofserum and urinary urate concentrations. This review will aid physicians in identifying these inherited kidney disorders associated with hyperuricemia and hypouricemia. Identification of these conditions will help to explain the pathogene
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
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT11322" target="_blank" >NT11322: Functional characterization of SLC22A12 and SLC2A9 allelic variants in Czech population</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Advances in Chronic Kidney Disease
ISSN
1548-5595
e-ISSN
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Volume of the periodical
19
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
398-403
UT code for WoS article
000310823000008
EID of the result in the Scopus database
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