在肺部和肝脏的表现包括肺气肿、慢性阻塞性肺病 (COPD) 和肝硬化。
血浆 AAT 水平、蛋白表型（称为 Pi 分型）以及蛋白基因分型可能是诊断所必需的。 罕见等位基因可能需要进行基因测序。
Pulmonary and Critical Care
University of Chicago
DKH has served as a consultant for CSL Behring: manufacturer of AAT replacement therapy. Has lectured for CSL Behring, Grifols, and Shire: manufacturers of AAT replacement therapy. Research sponsored by Shire: manufacturer of AAT replacement therapy.
Dr D. Kyle Hogarth would like to gratefully acknowledge Dr Paul J. Hutchison, a previous contributor to this monograph. PJH declares that he has no competing interests.
Assistant Professor of Medicine
David Geffen School of Medicine at UCLA
JD declares that she has no competing interests.
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.
Consultant Chest Physician
Aberdeen Royal Infirmary
GPC declares that he has no competing interests.