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Guidelines for the diagnosis and treatment of alpha 1-antitrypsin deficiency（2025 edition）
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摘要: 为进一步提高罕见病诊疗规范化水平，保障医疗质量安全，中华人民共和国国家卫生健康委员会组织对《第二批罕见病目录》中86个病种分别制定了诊疗指南，于2025年6月正式公开发布，其中包括阿拉杰里综合征、α1-抗胰蛋白酶缺乏症、先天性胆道闭锁、原发性胆汁性胆管炎、原发性硬化性胆管炎等5种罕见肝胆疾病。本文介绍了α1-抗胰蛋白酶缺乏症的病因、流行病学、临床表现、辅助检查、诊断与治疗意见，供临床参考。
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关键词:
- α1-抗胰蛋白酶缺乏症 /
- 诊断 /
- 治疗学 /
- 诊疗准则
Abstract: In order to further standardize the diagnosis and treatment of rare diseases and ensure medical quality and safety， National Health Commission of the People’s Republic of China developed the guidelines for the diagnosis and treatment of 86 diseases in the Second List of Rare Diseases， which were officially released in June 2025， including five rare hepatobiliary diseases of Alagille syndrome， α1-antitrypsin deficiency， congenital biliary atresia， primary biliary cholangitis， and primary sclerosing cholangitis. This article introduces the etiology， epidemiology， clinical manifestations， auxiliary examination， diagnosis， and treatment of alpha 1-antitrypsin deficiency， in order to provide a reference for clinical practice.-
Key words:
- Alpha 1-Antitrypsin Deficiency /
- Diagnosis /
- Therapeutics /
- Practice Guideline
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[1] National Health Commission of the People’s Republic of China. Guidelines for the diagnosis and treatment of 86 rare diseases(2025 edition)[EB/OL].( 2025-06-17)[ 2025-07-10]. https://www.gov.cn/zhengce/zhengceku/202507/content_7031426.htm. https://www.gov.cn/zhengce/zhengceku/202507/content_7031426.htm中华人民共和国国家卫生健康委员会. 86个罕见病病种诊疗指南(2025年版)[EB/OL].( 2025-06-17)[ 2025-07-10]. https://www.gov.cn/zhengce/zhengceku/202507/content_7031426.htm. https://www.gov.cn/zhengce/zhengceku/202507/content_7031426.htm -
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