α-1抗胰蛋白酶缺乏症相关肝病的诊治研究进展

摘要/Abstract

摘要： α-1抗胰蛋白酶缺乏症(AATD)是一种常见的常染色体共显性遗传性疾病,源于编码α-1抗胰蛋白酶(AAT)的SERPINA1基因突变,引起AAT聚合体滞留在肝细胞内质网,导致蛋白毒性肝损伤,引起儿童和成人肝病,已成为该类患者第二大死因。目前AATD肝病的发病机制尚不完全清楚,并且针对AATD肝病患者,除肝移植外,尚无大规模应用于临床的药物治疗,因此未来仍聚焦于AATD肝病治疗的探索。

关键词: α-1抗胰蛋白酶缺乏症, 基因突变, 慢性肝病, 诊断, 治疗

杨子新, 王胜兰. α-1抗胰蛋白酶缺乏症相关肝病的诊治研究进展[J]. 肝脏, 2022, 27(9): 959-962.

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