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제 2형 Cirgler-Najjar 증후군
A Case of Type 2 Crigler-Najjar Syndrome
이돈행(Don Haeng Lee),최정현(Jung Hyun Choi),안홍석(Hong Suk Ahnn),윤일국(Il Kuk Youn),장태정(Tae Jung Chang)
UCI I410-ECN-0102-2009-510-004929514

Type 2 Crigler-Najjar syndrome is a rare hereditary disorder characterized by chronic, nonhe- molytic and modest unconjugated hyperbilirubinemia. There are currently reported three types ot' syndrome: Gilbert, Type 1 and 2 Crigler-Najjar syndrome. Type 2 Crigler-Najjar syndrome is cau- sed by hereditary glucuronosyl transferase deficiency and it can be differentiated from the Gilbert and Type 1 Crigler-Najjar syndrome by the severity of hyperbilirubinemia and its response to phenobarbital administration. We expierienced a 22 year-old male patient who had shown persistent jaundice and unconjugated hyperbilirubinemia from adolescence. It was noted that several persons had shown jaundice among his maternal family. The plasma bilirubin concentration was elevated after fasting for 48 hours and was decreased dramatically by phenobarbital treatment. (Korean J Gastroenterol 1995;27:4S8 - 492)

[자료제공 : 네이버학술정보]
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