유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis

저자들은 4개월간 지속된 황달을 주소로 내원한 13년 6개월 남아에서 유전자 검사로 UGT1A1 유전자의 5번째 exon에서 1456번째 염기 치환(1456T>G)으로 인한 486번째 아미노산인 tyrosine이 aspartate로 치환된 변이(Y486D)를 확인하고 제2형 Crigler-Najjar 증후군으로 진단한 증례를 경험하였기에 보고한다.

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.