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Mutational analysis of idiopathic renal hypouricemia in Korea

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dc.contributor.authorCheong, Hae Il-
dc.contributor.authorKang, Ju Hyung-
dc.contributor.authorLee, Joo Hoon-
dc.contributor.authorHa, Il Soo-
dc.contributor.authorKim, Suhnggwon-
dc.contributor.authorKomoda, Fusako-
dc.contributor.authorSekine, Takashi-
dc.contributor.authorIgarashi, Takashi-
dc.contributor.authorChoi, Yong-
dc.date.accessioned2010-01-06T04:09:53Z-
dc.date.available2010-01-06T04:09:53Z-
dc.date.issued2005-05-25-
dc.identifier.citationPediatr Nephrol. 2005 Jul;20(7):886-90. Epub 2005 May 24.en
dc.identifier.issn0931-041X (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15912381-
dc.identifier.urihttp://hdl.handle.net/10371/26076-
dc.description.abstractIdiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. Most patients are clinically silent, but acute renal failure (ARF), urolithiasis, or hematuria may develop. A defect in the SLC22A12 gene, which encodes the renal uric acid transporter, URAT1, is the known major cause of this disorder. We performed a mutational analysis of the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia in this study. Two patients presented with microscopic hematuria, one with uric acid urolithiasis, and one with exercise-induced ARF. One patient was asymptomatic. Three different mutations, W258X, R90H and R477H, were detected in four of the patients. However, no mutation was found in the fifth ARF patient. This is the first study of SLC22A12 mutations in a country other than Japan. W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.en
dc.language.isoen-
dc.publisherSpringer Verlagen
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectArginineen
dc.subjectAsian Continental Ancestry Group/*geneticsen
dc.subjectBase Sequenceen
dc.subjectCarrier Proteins/*geneticsen
dc.subjectChilden
dc.subjectDNA Mutational Analysisen
dc.subjectExerciseen
dc.subjectFemaleen
dc.subjectHematuria/etiologyen
dc.subjectHistidineen
dc.subjectHumansen
dc.subjectKidney Diseases/*blood/complications/*genetics/radiographyen
dc.subjectKidney Failure, Acute/complications/etiologyen
dc.subjectMaleen
dc.subjectMolecular Sequence Dataen
dc.subject*Mutationen
dc.subjectOrganic Anion Transporters/*geneticsen
dc.subjectOrganic Cation Transport Proteinsen
dc.subjectTomography, X-Ray Computeden
dc.subjectTryptophanen
dc.subjectUric Acid/*blooden
dc.subjectUrinary Calculi/etiologyen
dc.titleMutational analysis of idiopathic renal hypouricemia in Koreaen
dc.typeArticleen
dc.contributor.AlternativeAuthor정해일-
dc.contributor.AlternativeAuthor강주형-
dc.contributor.AlternativeAuthor이주훈-
dc.contributor.AlternativeAuthor하일수-
dc.contributor.AlternativeAuthor김성권-
dc.contributor.AlternativeAuthor최용-
dc.identifier.doi10.1007/s00467-005-1863-3-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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