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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。Abstract: 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 2 patients 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.
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表 1 常见的可经肝移植治疗的IMLD
Table 1. Common IMLD that can be treated by liver transplantation
分类 常见病种 氨基酸代谢异常 酪氨酸血症 [9-10]
尿素循环障碍(鸟氨酸氨甲酰基
转移酶缺乏症等) [11-12]
甲基丙二酸血症 [13]
丙酸血症 [14]
枫糖尿病 [15]
希特林蛋白缺乏症 [16]糖类代谢障碍 糖原贮积症 [17-18] 脂质代谢障碍 家族性高胆固醇血症 [19-20]
戈谢病 [21]
尼曼-匹克病 [22]胆红素代谢障碍 Crigler-Najjar综合征 [23-25] 铜代谢异常 肝豆状核变性 [26-29] 铁代谢异常 新生儿铁贮积症 [30]
遗传性血色素沉着症 [31]其他 α1-抗胰蛋白酶缺乏症 [32]
高草酸尿症Ⅰ型 [33-34]
囊性纤维病 [35]
线粒体呼吸链缺陷 [36] -
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