지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제11권 제2호
- 발행연도
- 2008.1
- 수록면
- 219 - 222 (4page)
이용수
초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
Aono S / 1993 / Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II / Biochem Biophys Res Commu
Arias IM / 1969 / Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency : clinical, biochemical, pharmacologic and genetic evi
Bosma PJ / 1994 / Oude Elferink RP, Chowdhury JR, et al. Bilirubin UDP- glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man / J Biol Chem
Bosma PJ / 1995 / de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome / N Engl J Med 333
Bosma PJ / 2003 / Inherited disorders of bilirubin metabolism / J Hepatol 38 : 107 ~ 117
Arias IM / 1969 / Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency : clinical, biochemical, pharmacologic and genetic evi
Bosma PJ / 1994 / Oude Elferink RP, Chowdhury JR, et al. Bilirubin UDP- glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man / J Biol Chem
Bosma PJ / 1995 / de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome / N Engl J Med 333
Bosma PJ / 2003 / Inherited disorders of bilirubin metabolism / J Hepatol 38 : 107 ~ 117
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