Acute kidney injury in two children caused by renal hypouricaemia type 2

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F12%3A12742" target="_blank" >RIV/00064165:_____/12:12742 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/12:12742

Result on the web

<a href="http://dx.doi.org/10.1007/s00467-012-2174-0" target="_blank" >http://dx.doi.org/10.1007/s00467-012-2174-0</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Acute kidney injury in two children caused by renal hypouricaemia type 2

Original language description

Renal hypouricaemia is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and nephrolithiasis. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (OMIM #220150), while type 2 is caused by defects in the SLC2A9 gene (OMIM #612076). The cases of two children, a 12- and a 14-year-old boy with acute kidney injury (proband 1: urea 9.4 mmol/l, creatinine 226 mu mol/l; proband 2: urea 11.7 mmol/l, creatinine 202 mu mol/l) are described. Both are offspring of nonconsanguineous couples in the UK. The concentrations of serum uric acid were consistently below the normal range (0.03 and 0.04 mmol/l) and expressed as an increase in the fractional excretionof uric acid (46 and 93 %). A sequencing analysis of the coding region of uric acid transporters SLC22A12 and SLC2A9 was performed. Analysis of genomic DNA revealed two unpublished missense transitions, p.G216R and p.N333S in the SLC2A9

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

FG - Paediatrics

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

2012

Confidentiality

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

Name of the periodical

Pediatric Nephrology

ISSN

0931-041X

e-ISSN

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Volume of the periodical

27

Issue of the periodical within the volume

8

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

1411-1415

UT code for WoS article

000305682600025

EID of the result in the Scopus database

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