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유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예

DC FieldValueLanguage
dc.contributor.author고홍-
dc.contributor.author정기섭-
dc.date.accessioned2015-05-19T17:10:48Z-
dc.date.available2015-05-19T17:10:48Z-
dc.date.issued2008-
dc.identifier.issn2234-8646-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/107653-
dc.description.abstractCrigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.-
dc.description.statementOfResponsibilityopen-
dc.format.extent219~222-
dc.relation.isPartOfKorean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.title유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예-
dc.title.alternativeA Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthor김상이-
dc.contributor.googleauthor이수현-
dc.contributor.googleauthor고홍-
dc.contributor.googleauthor이승태-
dc.contributor.googleauthor기창석-
dc.contributor.googleauthor김종원-
dc.contributor.googleauthor정기섭-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00156-
dc.contributor.localIdA03581-
dc.relation.journalcodeJ02095-
dc.identifier.pmidCrigler-Najjar syndrome ; Unconjugated hyperbilirubinemia ; Bilirubin UDP-glucuronosyltransferase ; UGT1A1 ; Genetic mutation-
dc.subject.keywordCrigler-Najjar syndrome-
dc.subject.keywordUnconjugated hyperbilirubinemia-
dc.subject.keywordBilirubin UDP-glucuronosyltransferase-
dc.subject.keywordUGT1A1-
dc.subject.keywordGenetic mutation-
dc.contributor.alternativeNameKoh, Hong-
dc.contributor.alternativeNameChung, Ki Sup-
dc.contributor.affiliatedAuthorKoh, Hong-
dc.contributor.affiliatedAuthorChung, Ki Sup-
dc.rights.accessRightsfree-
dc.citation.volume11-
dc.citation.number2-
dc.citation.startPage219-
dc.citation.endPage222-
dc.identifier.bibliographicCitationKorean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지), Vol.11(2) : 219-222, 2008-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

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