A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis.
- Author:
Sang Yee KIM
1
;
Soo Hyun LEE
;
Hong KOH
;
Seung Tae LEE
;
Chang Seok KI
;
Jong Won KIM
;
Ki Sup CHUNG
Author Information
1. Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. kschung58@yuhs.ac
- Publication Type:Case Report
- Keywords:
Crigler-Najjar syndrome;
Unconjugated hyperbilirubinemia;
Bilirubin UDP-glucuronosyltransferase;
UGT1A1;
Genetic mutation
- MeSH:
Adolescent;
Bilirubin;
Child;
Crigler-Najjar Syndrome;
Exons;
Glucuronosyltransferase;
Hemolysis;
Humans;
Hyperbilirubinemia;
Jaundice;
Mutation, Missense;
Protein Isoforms;
Technetium Tc 99m Disofenin
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2008;11(2):219-222
- CountryRepublic of Korea
- Language:Korean
-
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.
