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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1007/s00467-012-2174-0
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 excretion of 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 Analysis of genomic DNA revealed two unpublished missense transitions, p.G216R and p.N333S in the SLC2A9 gene. No sequence variants in SLC22A12 were found. Our findings suggest that homozygous and/or compound heterozygous loss-of-function mutations p.G216R and p.N333S cause renal hypouricaemia via loss of uric acid absorption and do lead to acute kidney injury. 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 excretion of 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 Analysis of genomic DNA revealed two unpublished missense transitions, p.G216R and p.N333S in the SLC2A9 gene. No sequence variants in SLC22A12 were found. Our findings suggest that homozygous and/or compound heterozygous loss-of-function mutations p.G216R and p.N333S cause renal hypouricaemia via loss of uric acid absorption and do lead to acute kidney injury. (en)
Title	Acute kidney injury in two children caused by renal hypouricaemia type 2 Acute kidney injury in two children caused by renal hypouricaemia type 2 (en)
skos:prefLabel	Acute kidney injury in two children caused by renal hypouricaemia type 2 Acute kidney injury in two children caused by renal hypouricaemia type 2 (en)
skos:notation	RIV/00216208:11110/12:12742!RIV13-MZ0-11110___
http://linked.open...avai/predkladatel	1. lékařská fakulta
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NT11322)
http://linked.open...iv/cisloPeriodika	8
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Šebesta, Ivan Stibůrková, Blanka
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	120997
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/12:12742
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Acute kidney injury; Renal hypouricemia; SLC2A9; Uric acid transporters; slc2a9; hypouricemia (en)
http://linked.open.../riv/klicoveSlovo	Acute kidney injury Uric acid transporters hypouricemia slc2a9 Renal hypouricemia SLC2A9
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[2167028BAF7B]
http://linked.open...i/riv/nazevZdroje	Pediatric Nephrology
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Functional characterization of SLC22A12 and SLC2A9 allelic variants in Czech population
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Stibůrková, Blanka Taylor, Judy Šebesta, Ivan Marinaki, Anthony M.
http://linked.open...ain/vavai/riv/wos	000305682600025
issn	0931-041X
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Acute kidney injury in two children caused by renal hypouricaemia type 2

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