摘要
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.关键词
α1-抗胰蛋白酶缺乏症/诊断/治疗学/诊疗准则Key words
Alpha 1-Antitrypsin Deficiency/Diagnosis/Therapeutics/Practice Guideline
