Modern diagnostic approach to hereditary xanthinuria
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00082534" target="_blank" >RIV/00216224:14110/15:00082534 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/15:10294655 RIV/65269705:_____/15:00062999 RIV/00023728:_____/15:#0005046 RIV/00064165:_____/15:10294655
Result on the web
<a href="http://dx.doi.org/10.1007/s00240-014-0734-4" target="_blank" >http://dx.doi.org/10.1007/s00240-014-0734-4</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00240-014-0734-4" target="_blank" >10.1007/s00240-014-0734-4</a>
Alternative languages
Result language
angličtina
Original language name
Modern diagnostic approach to hereditary xanthinuria
Original language description
Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The allopurinolloading test has been traditionally used to differentiate between HX types I and II. Final confirmation of HX has been based on the biopsy finding of the absent XDH/XO activity in the small intestine or liver. We present the clinical, biochemical, ultrasound and molecular genetics findings in three new patients with HX and suggest a simple three-step approach to be used for diagnosis, typing and confirmation of HX. In the first step, the diagnosis of HX is determined by extremely low serum/urinary uricacid excessively replaced by xanthine. Second, HX is typed using urinary metabolomics. Finally, the results are confirmed by molecular genetics.
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
FE - Other fields of internal medicine
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Urolithiasis
ISSN
2194-7228
e-ISSN
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Volume of the periodical
43
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
61-67
UT code for WoS article
000347840200010
EID of the result in the Scopus database
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