α-1 抗胰蛋白酶（alpha-1 antitrypsin, AAT）缺乏症是一种具有常染色体遗传模式和等位基因共显性表达的遗传性疾病
等位基因突变导致负责中和中性粒细胞弹性蛋白酶的 α-1 抗胰蛋白酶失去活性
为了诊断，可能需进行血浆 AAT 水平检测、表型（称为 Pi 分型）以及基因分型。罕见等位基因可能需要进行基因测序
D. Kyle Hogarth, MD, FCCP
Pulmonary and Critical Care
University of Chicago
DKH has given lectures for Grifols and Takeda, makers of alpha-1 antitrypsin related products. He serves on the data safety and monitoring board for a study conducted by InhibRx and is the principal investigator for studies sponsored by Vertex and Takeda. DKH is an author of a number of references cited in this topic.
Dr D. Kyle Hogarth would like to gratefully acknowledge Dr Paul J. Hutchison, a previous contributor to this topic. PJH declares that he has no competing interests.
Jane Deng, MD
Assistant Professor of Medicine
David Geffen School of Medicine at UCLA
JD declares that she has no competing interests.
Franck Rahaghi, MD
Chair of Quality
Pulmonary Hypertension Clinic
Pulmonary Education and Rehabilitation
Department of Pulmonary, Allergy and Critical Care
Cleveland Clinic Florida
FR has been a consultant and speaker and has received funding from Baxter Healthcare and CSL Behring.
Graeme P. Currie, MD, FRCP
Consultant Chest Physician
Aberdeen Royal Infirmary
GPC declares that he has no competing interests.