肝移植治疗鸟氨酸氨甲酰转移酶缺乏症的研究进展  

New progress in liver transplantation for ornithine transcarbamylase deficiency

作　　者：林冬妮 万平[1] 夏强[1,2,3] Lin Dongni;Wan Ping;Xia Qiang(Liver Department,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Shanghai Institute of Organ Transplantation,Shanghai 200127,China;Shanghai Research Center of Organ Transplantation&Immune Engineering Technology,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,200127 [2]上海市器官移植研究所,200127 [3]上海市器官移植与免疫工程技术研究中心,200127

出　　处：《中华移植杂志（电子版）》2023年第3期180-185,共6页Chinese Journal of Transplantation(Electronic Edition)

基　　金：国家和省级重大疾病多学科合作诊疗能力建设项目(2020);上海市"科技创新行动计划"医学创新研究专项项目(22Y21900400)。

摘　　要：鸟氨酸氨甲酰转移酶(OTC)缺乏症(OTCD)是一种X连锁肝脏代谢遗传病,也是最常见的尿素循环障碍疾病。由于OTC基因缺陷引起OTC活性降低或缺失,患者出现血氨代谢障碍,临床表现为反复发作的高氨血症及神经系统损伤。对于保守治疗无效的患者,目前肝移植是唯一的治愈方法,可纠正患者代谢危象,提高其长期生存质量。本文针对OTCD患者的肝移植手术适应证和手术时机、手术方式和供者选择以及术后远期疗效三个方面,综述肝移植治疗OTCD的研究进展。Ornithine transcarbamylase(OTC)deficiency(OTCD)is an X-linked genetic disorder caused by a genetic defect of OTC that results in disorders of ammonia metabolism,leading to recurrent hyperammonemia and neurological damage.For patients failed with conservative treatment,liver transplantation is currently the only curative method to correct the patient′s metabolic crisis and improve long-term survival quality.This article reviews the research progress of liver transplantation for OTCD in three aspects:indications and timing of liver transplantation,surgical approach and donor selection,and long-term postoperative outcomes.

关 键 词：鸟氨酸氨甲酰转移酶缺乏症 肝移植 神经发育损伤 

分 类 号：R657.3[医药卫生—外科学]