Purine disorders with hypouricemia

Result code in 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>

Alternative codes found

RIV/00064165:_____/14:10292829

Result on the web

<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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Result language

angličtina

Original language name

Purine disorders with hypouricemia

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FP - Other medical fields

OECD FORD branch

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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

Publication year

2014

Confidentiality

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

Name of the periodical

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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Volume of the periodical

35

Issue of the periodical within the volume

1

Country of publishing house

MK - REPUBLIC OF NORTH MACEDONIA

Number of pages

6

Pages from-to

87-92

UT code for WoS article

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EID of the result in the Scopus database

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