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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/12:12742

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 Analysis of genomic DNA revealed two unpublished missense transitions, p.G216R and p.N333S in the SLC2A9

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

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

CEP obor

FG - Pediatrie

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

2012

Kód důvěrnosti údajů

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

Název periodika

Pediatric Nephrology

ISSN

0931-041X

e-ISSN

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Svazek periodika

27

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

1411-1415

Kód UT WoS článku

000305682600025

EID výsledku v databázi Scopus

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