A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
; : 219-222, 2008.
Article
in Ko
| WPRIM
| ID: wpr-130292
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Bilirubin
/
Exons
/
Glucuronosyltransferase
/
Technetium Tc 99m Disofenin
/
Protein Isoforms
/
Mutation, Missense
/
Crigler-Najjar Syndrome
/
Hemolysis
/
Hyperbilirubinemia
/
Jaundice
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Child
/
Humans
Language:
Ko
Journal:
Korean Journal of Pediatric Gastroenterology and Nutrition
Year:
2008
Type:
Article