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유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예
DC Field | Value | Language |
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dc.contributor.author | 고홍 | - |
dc.contributor.author | 정기섭 | - |
dc.date.accessioned | 2015-05-19T17:10:48Z | - |
dc.date.available | 2015-05-19T17:10:48Z | - |
dc.date.issued | 2008 | - |
dc.identifier.issn | 2234-8646 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/107653 | - |
dc.description.abstract | Crigler-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.statementOfResponsibility | open | - |
dc.format.extent | 219~222 | - |
dc.relation.isPartOf | Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예 | - |
dc.title.alternative | A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | 김상이 | - |
dc.contributor.googleauthor | 이수현 | - |
dc.contributor.googleauthor | 고홍 | - |
dc.contributor.googleauthor | 이승태 | - |
dc.contributor.googleauthor | 기창석 | - |
dc.contributor.googleauthor | 김종원 | - |
dc.contributor.googleauthor | 정기섭 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00156 | - |
dc.contributor.localId | A03581 | - |
dc.relation.journalcode | J02095 | - |
dc.identifier.pmid | Crigler-Najjar syndrome ; Unconjugated hyperbilirubinemia ; Bilirubin UDP-glucuronosyltransferase ; UGT1A1 ; Genetic mutation | - |
dc.subject.keyword | Crigler-Najjar syndrome | - |
dc.subject.keyword | Unconjugated hyperbilirubinemia | - |
dc.subject.keyword | Bilirubin UDP-glucuronosyltransferase | - |
dc.subject.keyword | UGT1A1 | - |
dc.subject.keyword | Genetic mutation | - |
dc.contributor.alternativeName | Koh, Hong | - |
dc.contributor.alternativeName | Chung, Ki Sup | - |
dc.contributor.affiliatedAuthor | Koh, Hong | - |
dc.contributor.affiliatedAuthor | Chung, Ki Sup | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 11 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 219 | - |
dc.citation.endPage | 222 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지), Vol.11(2) : 219-222, 2008 | - |
dc.identifier.rimsid | 54811 | - |
dc.type.rims | ART | - |
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