Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation
复制标题
DOI：
10.1056/nejm199805143382004
复制
发表时间：
1998-05-14
影响因子：
158.5
通讯作者：
Strom, SC
中科院分区：
文献类型：
--
作者：
Fox, IJ;Chowdhury, JR;Strom, SC
I 型克里格勒-纳贾尔综合征是一种隐性遗传性疾病，其特征是出生时就出现严重的非结合胆红素血症。该综合征是由于肝脏尿苷二磷酸葡萄糖醛酸 (UDP) 葡萄糖醛酸基转移酶活性缺失所致，而肝脏尿苷二磷酸葡萄糖醛酸转移酶活性对于胆红素的结合和排泄至关重要。由于血浆中未结合胆红素的积累，患者面临核黄疸的风险。1尽管光疗成功降低了血清胆红素水平，但在青春期左右，光疗效果较差，患者再次面临核黄疸的风险。2每天所需的光疗持续时间通常接近 14 至 16 小时。目前，肝移植是唯一确定的治疗方法。 。 。 。
Crigler–Najjar syndrome type I is a recessively inherited disorder characterized by severe unconjugated hyperbilirubinemia beginning at birth. The syndrome results from an absence of hepatic uridine diphosphoglucuronate (UDP) glucuronosyltransferase activity, which is essential for the conjugation and excretion of bilirubin. Because of the accumulation of unconjugated bilirubin in plasma, patients are at risk for kernicterus.1Although phototherapy successfully reduces serum bilirubin levels, patients are again at risk for kernicterus around the time of puberty, when phototherapy becomes less effective.2The necessary daily duration of phototherapy often approaches 14 to 16 hours. At present, liver transplantation is the only definitive treatment. . . .