亲体肝移植治疗新生儿肝内胆汁淤积型希特林缺乏症1例  

Living donor liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency

作　　者：刘源[1] 夏强[1] 张建军[1] 薛峰[1] 夏雷[1] 罗毅[1] 邱必军[1] 封明轩[1] 陈小松[1] 韩龙志[1] Liu Yuan;Xia Qiang;Zhang Jianjun;Xue Feng;Xia Lei;Luo Yi;Qiu Bijun;Feng Mingxuan;Chen Xiaosong;Han Longzhi(Department of Liver Surgery,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属仁济医院肝脏外科,上海200127

出　　处：《实用器官移植电子杂志》2018年第6期461-463,共3页Practical Journal of Organ Transplantation(Electronic Version)

基　　金：申康三年行动计划项目(16CR1003A);医学院多中心临床研究项目(DLY201606);上海市科委多中心临床研究项目(15411950401)

摘　　要：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。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.

关 键 词：肝内胆汁淤积型 希特林缺乏症 亲体肝移植 杂合子 胆道闭锁 

分 类 号：R726.5[医药卫生—儿科]