Unusual abnormalities in adolescent siblings with alpha 1-antitrypsin deficiency.
We studied, over a four-year period, two adolescents with alpha 1-antitrypsin (AAT) deficiency who subsequently died from complications of hepatic cirrhosis. Serial pulmonary function studies indicated mild obstructive lung disease involving peripheral airways in both patients. Postmortem histologic and pulmonary morphometric studies indicated mild diffuse airspace and bronchial gland enlargement, and slight dilation of small airways. This airspace enlargement may represent the early stage of lung disease in AAT-deficient subjects and suggests that pulmonary anatomic changes may occur long before the onset of clinically and pathologically significant emphysema.
D000293:Adolescent; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics*; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008173:Lung Diseases, Obstructive / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008176:Lung Volume Measurements; D008297:Male; D011650:Pulmonary Alveoli / Q000473:pathology; D012123:Pulmonary Ventilation; D011859:Radiography; D019896:alpha 1-Antitrypsin Deficiency