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유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예

Other Titles
 A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis 
 김상이  ;  이수현  ;  고홍  ;  이승태  ;  기창석  ;  김종원  ;  정기섭 
 Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지), Vol.11(2) : 219-222, 2008 
Journal Title
 Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지) 
Issue Date
Crigler-Najjar syndrome ; Unconjugated hyperbilirubinemia ; Bilirubin UDP-glucuronosyltransferase ; UGT1A1 ; Genetic mutation
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Chung, Ki Sup(정기섭)
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