Modern diagnostic approach to hereditary xanthinuria

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00077145" target="_blank" >RIV/00216224:14110/14:00077145 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Modern diagnostic approach to hereditary xanthinuria

Popis výsledku v původním jazyce

Hereditary xanthinuria (HX) is a rare autosomal recessive disorder of purine metabolism caused by a deficiency of xanthine dehy-drogenase (XDH), which catalyses the conversion of hypoxanthine and xanthine to uric acid. Missing XHD activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The typical finding of radiolucent renal stones is present in 40% of cases. Two types of HX have been described - simple XDH deficiency (type I) and dual XDH and aldehyde oxidase (AO) deficiency (type II). Although both types of HX have characteristic biochemical profile, the allopurinol loading test has been traditionally used to differentiate between them. Moreover, final confirmation of HX has been based on the biopsy finding of the absent XDH activity in the small intestine or liver.

Název v anglickém jazyce

Modern diagnostic approach to hereditary xanthinuria

Popis výsledku anglicky

Hereditary xanthinuria (HX) is a rare autosomal recessive disorder of purine metabolism caused by a deficiency of xanthine dehy-drogenase (XDH), which catalyses the conversion of hypoxanthine and xanthine to uric acid. Missing XHD activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The typical finding of radiolucent renal stones is present in 40% of cases. Two types of HX have been described - simple XDH deficiency (type I) and dual XDH and aldehyde oxidase (AO) deficiency (type II). Although both types of HX have characteristic biochemical profile, the allopurinol loading test has been traditionally used to differentiate between them. Moreover, final confirmation of HX has been based on the biopsy finding of the absent XDH activity in the small intestine or liver.

Druh

O - Ostatní výsledky

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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