SEVERE OBSTRUCTIVE LUNG-DISEASE IN A 14-YEAR-OLD GIRL WITH ALPHA-1 ANTITRYPSIN DEFICIENCY

[摘要] Severe, largely irreversible obstructive lung disease, compatible with emphysema, was found in a 14 yr old white girl who had been considered to have chronic asthma. She also presented a serum .alpha.-1 antitrypsin deficiency. Serum values for .alpha.-1 antitrypsin on 2 occasions were 95 and 105 mg/100 ml; Pi [protease inhibitor] type was SZ. A family survey disclosed a 13 yr old brother with the same pattern of .alpha.-1 antitrypsin deficiency. His serum value was 122.5 mg/100 ml; Pi type was SZ. He was asymptomatic and showed minimal pulmonary function abnormalities.