遗传代谢性肝病的肝移植治疗

沈丛欢; 王正昕

doi:10.3969/j.issn.1674-7445.2023212

遗传代谢性肝病的肝移植治疗

doi: 10.3969/j.issn.1674-7445.2023212

沈丛欢,
王正昕^,

200040　上海，复旦大学附属华山医院普外科肝脏移植中心

基金项目: 国家自然科学基金（82071797、82241225）

详细信息

作者简介:

通讯作者:
王正昕（ORCID 0000-0002-3191-859X），博士，主任医师，研究方向为肝移植基础研究与临床应用，Email: wangzhengxin@huashan.org.cn

中图分类号: R617，R575
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出版历程
- 收稿日期: 2023-11-15
- 录用日期: 2024-01-12
- 网络出版日期: 2024-01-18
- 刊出日期: 2024-03-15

Liver transplantation for inherited metabolic liver diseases

Shen Conghuan,
Wang Zhengxin^,

Liver Transplantation Center, General Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China

More Information

Author Bio:
沈丛欢，复旦大学附属华山医院副主任医师，普外科肝脏移植中心副主任。参与肝脏移植手术1 500余例，其中成人肝移植1 000余例，儿童肝移植500余例。擅长活体肝移植的肝动脉显微重建及胆管重建。兼任中国医疗保健国际交流促进会肝脏移植分会委员、海峡两岸医药卫生交流协会器官移植分会委员、中国研究型医院学会加速康复外科专业委员会肝脏移植加速康复学组委员、上海市医学会肝病分会遗传代谢肝病学组委员、中国抗癌协会胆道肿瘤专业委员会青年委员、上海岩华公益基金会理事。兼任《器官移植》杂志通讯编委。作为第一作者发表核心期刊及SCI论文20余篇。获2015年上海市科技进步奖一等奖和2021年上海市医学科技奖二等奖

Corresponding author: Wang Zhengxin, Email: wangzhengxin@huashan.org.cn

摘要

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。
- 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
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.
- Inherited metabolic liver disease /
- Tyrosinemia /
- Glycogen storage disease /
- Hepatolenticular degeneration /
- Hyperoxaluria /
- Split liver transplantation /
- Domino liver transplantation /
- Auxiliary liver transplantation

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FIG. 2986. FIG. 2986.

FIG. 2986.. FIG. 2986.

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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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