Purine disorders with hypouricemia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10292829" target="_blank" >RIV/00216208:11110/14:10292829 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10292829

Výsledek na webu

<a href="http://manu.edu.mk/prilozi/2is.pdf" target="_blank" >http://manu.edu.mk/prilozi/2is.pdf</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Purine disorders with hypouricemia

Popis výsledku v původním jazyce

Hypouricemia is defined as a serum urate levels less than 2 mg/dL (119 ?mol/L). Primary hypouricemia is caused by disorders of purine metabolism and transport. This laboratory finding is sometimes overlooked and, following two genetic defects, should beconsidered in differential diagnosis of unexplained hypouricemia. Hereditary xanthinuria is autosomal recessive and due to mutations in xanthine oxidase, leading to over-production of xanthine and minimal production of urate. Patients have very low serumurate levels and suffer from elevated levels of xanthine in the urine, leading to xanthine stones, haematuria, and sometimes occult chronic kidney failure. Hypouricemia is the key to diagnosis. Hereditary renal hypouricemia is a new genetic defect of renal transport of uric acid. Two types were distinguished: a) renal hypouricemia type 1, caused by the defects in the SLC22A12 gene coding the human urate transporter 1 (hURAT1) and b) renal hypouricemia type 2, caused by the defects in th

Název v anglickém jazyce

Purine disorders with hypouricemia

Popis výsledku anglicky

Hypouricemia is defined as a serum urate levels less than 2 mg/dL (119 ?mol/L). Primary hypouricemia is caused by disorders of purine metabolism and transport. This laboratory finding is sometimes overlooked and, following two genetic defects, should beconsidered in differential diagnosis of unexplained hypouricemia. Hereditary xanthinuria is autosomal recessive and due to mutations in xanthine oxidase, leading to over-production of xanthine and minimal production of urate. Patients have very low serumurate levels and suffer from elevated levels of xanthine in the urine, leading to xanthine stones, haematuria, and sometimes occult chronic kidney failure. Hypouricemia is the key to diagnosis. Hereditary renal hypouricemia is a new genetic defect of renal transport of uric acid. Two types were distinguished: a) renal hypouricemia type 1, caused by the defects in the SLC22A12 gene coding the human urate transporter 1 (hURAT1) and b) renal hypouricemia type 2, caused by the defects in th

Druh

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

CEP obor

FP - Ostatní lékařské obory

OECD FORD obor

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Projekt

<a href="/cs/project/NT11322" target="_blank" >NT11322: Charakterizace alelických variant SLC22A12 a SLC2A9 v české populaci</a><br>

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

Název periodika

Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za bioloiki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences.

ISSN

0351-3254

e-ISSN

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Svazek periodika

35

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

MK - Republika Severní Makedonie

Počet stran výsledku

6

Strana od-do

87-92

Kód UT WoS článku

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EID výsledku v databázi Scopus

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