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REVIEW
Minerva Respiratory Medicine 2023 March;62(1):33-41
DOI: 10.23736/S2784-8477.22.02046-0
Copyright © 2022 EDIZIONI MINERVA MEDICA
language: English
Clinical aspect of AATD
Robert A. STOCKLEY ✉
Unit of Lung Investigation, NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, University Hospitals of Birmingham, Birmingham, UK
Since the initial description of the pulmonary pathology associated with alpha1 antitrypsin deficiency, much has been learned about the variability of genetic penetrance and variations in the clinical phenotype, its effect on physiology, radiology and its progression and management. The current review explores all these aspects including the impact of smoking and its cessation to enable physicians to understand how it might present and decline with time.
KEY WORDS: Alpha 1-antitrypsin deficiency; Emphysema; Respiratory physiological phenomena