[Pulmonary function and clinical pattern in homozygous (PiZ) alpha1-antitrypsin deficiency (author's transl)]

A group of 6 males with severe alpha1-antitrypsin deficiency, underwent clinical and pulmonary function evaluation. Findings were compared to those in a group of males with different degrees of airflow obstruction, comparable ages and tobacco consumption, but with normal serum levels of alpha1-antitrypsin. The deficient group was characterized by: (1) a relatively early appearance of symptoms; (2) disturbed lung scans, mostly in the basal zones; (3) radiological evidence, in most cases, of pulmonary emphysema with, in particular, bullae in the lower lung zones; (4) hypoxemia without hypercapnia and a decreased TCO/VA, and (5) a more or less severe reduction of maximal expiratory flows largely, but not exclusively due to a decrease in lung elastic recoil. Clinical and functional parameters did not permit a clear distinction between the deficient and non-deficient groups.