Clinical conference: Severe obstructive lung disease in a 14-year-old girl with alpha-1 antitrypsin deficiency.
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 two occassions were 95 and 105 mg/100 ml; Pi 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.
D000293:Adolescent; D000402:Airway Obstruction / Q000150:complications* / Q000175:diagnosis; D001249:Asthma / Q000150:complications*; D001796:Blood Protein Disorders / Q000235:genetics; D005260:Female; D006801:Humans; D010375:Pedigree; D012129:Respiratory Function Tests; D019896:alpha 1-Antitrypsin Deficiency