遗传代谢性肝病的肝移植治疗  

Liver transplantation for inherited metabolic liver diseases

作　　者：沈丛欢 王正昕 Shen Conghuan;Wang Zhengxin(Liver Transplantation Center,General Surgery,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院普外科肝脏移植中心,上海200040

出　　处：《器官移植》2024年第2期178-184,共7页Organ Transplantation

基　　金：国家自然科学基金(82071797、82241225)。

摘　　要：遗传代谢性肝病(IMLD)是一类基因异常导致的肝脏代谢性疾病。IMLD发病机制复杂,常见的原因包括特定酶缺陷导致有害代谢底物或产物蓄积以及糖、脂肪等物质代谢异常导致的能量缺陷或异常沉积等。近年来,随着肝移植技术的发展,肝移植在治疗IMLD中发挥着越来越重要的作用。目前,在儿童肝移植中,IMLD已成为继胆道闭锁后的第二大适应证。目前接受肝移植治疗的IMLD患者主要分为两大类:第1类为IMLD合并肝脏病变;第2类患者肝脏结构正常,但相关代谢酶缺陷。肝移植一方面能替换结构和功能异常的肝脏,另一方面能提供患者代谢所需的正常酶,改善患者生活质量,甚至挽救患者生命。本文对常见的可行肝移植治疗的IMLD、肝移植治疗IMLD的预后及手术方式进行综述,旨在为肝移植治疗IMLD提供参考依据。Inherited metabolic liver disease(IMLD) is a category of liver metabolic diseases caused by genetic disorders.The pathogenesis of IMLD is complex,which primarily comprises the accumulation of harmful metabolic substrates or products caused by specific enzyme defects and energy defects or abnormal deposition caused by abnormal metabolism of glucose,fat and other substances.In recent years,liver transplantation has played an increasingly critical role in the treatment of IMLD with the development of liver transplantation.At present,IMLD has become the second most important indication after biliary atresia in pediatric liver transplantation.Currently,IMLD patients receiving liver transplantation can be divided into two categories:the first category is IMLD complicated with liver disease;Category 2patients have a normal liver structure but are deficient in related metabolic enzymes.It can not only replace the liver with abnormal structure and function,but also provide normal enzymes required for patients' metabolism,which may improve their quality of life and even save their lives.In this article,common feasible liver transplantation for IMLD,clinical prognosis and surgical procedures of liver transplantation for IMLD were reviewed,aiming to provide reference for liver transplantation for IMLD.

关 键 词：遗传代谢性肝病 酪氨酸血症 糖原贮积症 肝豆状核变性 高草酸尿症 劈离式肝移植 多米诺肝移植 辅助式肝移植 

分 类 号：R617[医药卫生—外科学] R575[医药卫生—临床医学]