Alpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic Association.
In a multicentred survey of alpha 1-antitrypsin deficiency, radiological details have been obtained in 165 subjects homozygous for Pi type Z and in 23 subjects heterozygous for type SZ. Eight-five per cent of all type Z subjects had radiological evidence of pulmonary emphysema which was commoner in smokers than in those who had never smoked and which predominantly affected the lower zones of the lungs; 66% of the type Z subjects identified through family studies also had emphysema. Emphysema in subjects of Pi type SZ was limited to those who had smoked; this phenotype may not carry a specific risk of emphysema.
D000328:Adult; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D011656:Pulmonary Emphysema / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012737:Sex Factors; D012907:Smoking; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin