Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association.
In a multicentre survey of alpha 1 antitrypsin deficiency 25 heterozygotes of type SZ were identified. Fourteen index cases were identified through chest clinics and 11 non-index cases through family studies. Emphysema was largely confined to index males who had smoked and there was little evidence of the disease among the non-index cases. It appears that the SZ phenotype may carry little or no extra risk of emphysema.
D000328:Adult; D000368:Aged; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics / Q000503:physiopathology; D012129:Respiratory Function Tests; D012907:Smoking; D019896:alpha 1-Antitrypsin Deficiency