Modern diagnostic approach to hereditary xanthinuria

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/15:10294655 RIV/65269705:_____/15:00062999 RIV/00023728:_____/15:#0005046 RIV/00064165:_____/15:10294655

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Modern diagnostic approach to hereditary xanthinuria

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Modern diagnostic approach to hereditary xanthinuria

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FE - Ostatní obory vnitřního lékařství

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Urolithiasis

ISSN

2194-7228

e-ISSN

—

Svazek periodika

43

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

61-67

Kód UT WoS článku

000347840200010

EID výsledku v databázi Scopus

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