Objective To report the prognosis of living donor liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency（NICCD）. Methods A 8-month-old boy was diagnosed as NICCD and received appropriate treatment after diagnosis. This patient received living donor liver transplantation donated by his heterozygous mother. Results The recipient and donor had an uneventful recovery after operation. Liver function returned to normal one week after transplantation and maintained normal during the 4-month follow-up. Liver biopsy after transplantation indicated biliary atresia with fatty liver. The metabolism of amino acid and ammonia returned to normal after transplantation and dicarboxylic aciduria was not detected. This patient is now receiving normal diet. Conclusion For children diagnosed with NICCD accompanied with end-stage liver disease，liver transplantation is an effective treatment. Meanwhile，for NICCD patients who developed end-stage liver disease after appropriate treatment，other accompanied congenital liver disease should be considered.

目的 探讨杂合子亲体肝移植治疗新生儿肝内胆汁淤积型（neonatal intrahepatic cholestasis caused by citrin deficiency，NICCD）希特林缺乏症的疗效。方法 1 例诊断为 NICCD 的 8 个月的患儿予以 合理治疗后，在本院接受杂合子母亲供肝的亲体肝移植术。结果 术后受体和供体均恢复顺利并存活至 今。患儿肝功能在术后一周恢复到正常功能，并在随访期间保持稳定。术后病理提示胆道闭锁合并脂肪肝。 患儿术后氨基酸代谢及血氨恢复正常，双羧酸尿消失，并且恢复正常饮食。结论 对于合并终末期肝病的 NICCD 患儿，肝移植可以有效的治疗患儿的肝功能异常及原有的代谢疾病。同时，经过积极内科治疗仍存 在严重肝功能异常的 NICCD 患儿，需要考虑是否合并其他先天性胆汁淤积性肝病。