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Article |

An Overview of the Pulmonary Features of a1-Antitrypsin Deficiency

Martin J. Tobin, MB, MRCPI; Duncan C. S. Hutchison, BM, FRCPG
Arch Intern Med. 1982;142(7):1342-1348. doi:10.1001/archinte.1982.00340200102021.
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• Extensive research, stimulated by the recognition of an association between α1-antitrypsin (α1-AT) deficiency and emphysema, has greatly advanced our understanding of emphysema in general. In this article, we review the literature concerning the basic defect, inheritance, pathogenesis of lung disease, clinical, physiologic, and roentgenographic findings in patients with severe (Pi Z) and intermediate (Pi SZ) deficiency of α1-AT. Data obtained in relatives with α1-AT deficiency, who have not been seen by a physician, should more truly reflect the risk of having lung disease. These studies confirm the increased risk of developing lung disease in cigarette smokers. The implications of the finding that subjects with Pi SZ are probably not at an increased risk of lung disease is discussed with regards to replacement therapy. The natural history of unselected subjects with α1-AT deficiency remains unknown.

(Arch Intern Med 1982;142:1342-1348)


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