About: Genetic Disorders Resulting in Hyper- or Hypouricemia

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1053/j.ackd.2012.06.002
Description	Serum uric acid concentrations are governed by the balance of urate production and excretion. Besides well-known secondary causes of hyperuricemia, such as myeloproliferative diseases, decreased renal function, and excessive dietary purine intake, there are a number of genetic disorders that result in hyper- or hypouricemia. Renal impairment in these disorders may be associated with the development of chronic kidney disease, acute kidney injury, or urate nephrolithiasis. These conditions are frequently misdiagnosed, not because the diagnosis is complicated and difficult to ascertain, but rather because of a lack of awareness of the particular condition. The first important step in the diagnosis is obtaining a detailed family history, with evaluation of serum and urinary urate concentrations. This review will aid physicians in identifying these inherited kidney disorders associated with hyperuricemia and hypouricemia. Identification of these conditions will help to explain the pathogenesis of different types of gout, and may extend insights into the urate transport and chronic kidney disease. (C) 2012 by the National Kidney Foundation, Inc. All rights reserved. Serum uric acid concentrations are governed by the balance of urate production and excretion. Besides well-known secondary causes of hyperuricemia, such as myeloproliferative diseases, decreased renal function, and excessive dietary purine intake, there are a number of genetic disorders that result in hyper- or hypouricemia. Renal impairment in these disorders may be associated with the development of chronic kidney disease, acute kidney injury, or urate nephrolithiasis. These conditions are frequently misdiagnosed, not because the diagnosis is complicated and difficult to ascertain, but rather because of a lack of awareness of the particular condition. The first important step in the diagnosis is obtaining a detailed family history, with evaluation of serum and urinary urate concentrations. This review will aid physicians in identifying these inherited kidney disorders associated with hyperuricemia and hypouricemia. Identification of these conditions will help to explain the pathogenesis of different types of gout, and may extend insights into the urate transport and chronic kidney disease. (C) 2012 by the National Kidney Foundation, Inc. All rights reserved. (en)
Title	Genetic Disorders Resulting in Hyper- or Hypouricemia Genetic Disorders Resulting in Hyper- or Hypouricemia (en)
skos:prefLabel	Genetic Disorders Resulting in Hyper- or Hypouricemia Genetic Disorders Resulting in Hyper- or Hypouricemia (en)
skos:notation	RIV/00216208:11110/12:13345!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	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Šebesta, Ivan
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	137898
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/12:13345
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Hyperuricemia; Hypouricemia; Primary hereditary renal hypouricemia; Uromodulin-associated kidney disease; Excretion fraction of uric acid; lesch-nyhan-disease; renal hypouricemia; phosphoribosylpyrophosphate synthetase; nephropathy fjhn; urate excretion; kidney-disease; mutation; hyperuricemia; allopurinol; metabolism (en)
http://linked.open.../riv/klicoveSlovo	metabolism Excretion fraction of uric acid Hyperuricemia Hypouricemia Primary hereditary renal hypouricemia Uromodulin-associated kidney disease allopurinol hyperuricemia kidney-disease lesch-nyhan-disease nephropathy fjhn phosphoribosylpyrophosphate synthetase renal hypouricemia urate excretion mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[7908B1F9CF96]
http://linked.open...i/riv/nazevZdroje	Advances in Chronic Kidney Disease
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	1 (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	19
http://linked.open...iv/tvurceVysledku	Šebesta, Ivan
http://linked.open...ain/vavai/riv/wos	000310823000008
issn	1548-5595
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Genetic Disorders Resulting in Hyper- or Hypouricemia

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