Alpha-1-antitrypsin deficiency in a Southland family.
After diagnosis of an alpha-1-antitrypsin deficiency in a patient with emphysema, three complete generations of his family were screened for the defect. Half of the 42 subjects had a defective phenotype (18 were MZ, two were ZZ, and one SZ). Of this group, five had other avoidable risk factors predisposing to emphysema, and a further 10 were children. The four oldest subjects had radiological evidence of emphysema. Patients at risk were advised to stop smoking and avoid occupational exposure to lung irritants.
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009784:Occupational Diseases / Q000150:complications; D011656:Pulmonary Emphysema / Q000209:etiology / Q000235:genetics*; D012907:Smoking / Q000150:complications; D019896:alpha 1-Antitrypsin Deficiency