α1-抗胰蛋白酶缺乏症

摘要

Alpha-1-antitrypsin deficiency (AATD) is a rare genetic metabolic disease,characterized by a lack of alpha-1-antitrypsin,which can lead to chronic lung and liver disease.The lung disease is thought to be caused primarily by a lack of effective protection against the harmful effects of elastase due to the low AAT levels in the lung.Patients may also develop liver disease due to polymerisation of AAT within hepatocytes.Measuring the AAT serum level,AAT protein phenotyping,and SERPINA1 allele genotyping can help to diagnose AATD.The prognosis of AATD has been improved by AAT augmentation therapy in patients with lung disease,which can prevent or delay lung tissue destruction.%α1-抗胰蛋白酶缺乏症(AATD)是一种少见的遗传代谢性疾病,主要表现为血清α1-抗胰蛋白酶(AAT)缺乏.可因AAT水平下降,无法抑制弹性蛋白酶活性,导致肺组织破坏,或因错误AAT蛋白在肝细胞内的聚合导致肝损伤.血清AAT测定、AAT蛋白表型检测及SERPINA1基因等位基因的测定可明确诊断.AAT的补充治疗可以阻止或延缓患者肺组织的破坏,改善AATD预后.