Adult alpha1-antitrypsin deficiency.
Three adults with alpha 1-antitrypsin deficiency are described. In two of the cases the deficiency was genetically determined (cases 1 and 2), and each demonstrated unusual features of the disease. The liver in case 1 (homozygous) showed cholangiolar hyperplasia which has been recorded only once before. Case 2 (heterozygous) had emphysema and cirrhosis, a combination not previously documented in a heterozygote, in addition to malabsorption. Case 3 represents a case of spurious alpha 1-antitrypsin deficiency with cirrhosis included to emphasize the diagnostic improtance of phenotyping in such cases.
D001653:Bile Ducts, Intrahepatic / Q000473:pathology; D004646:Emphysema / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006965:Hyperplasia / Q000473:pathology; D007413:Intestinal Mucosa / Q000473:pathology; D008103:Liver Cirrhosis; D008297:Male; D008875:Middle Aged; D019896:alpha 1-Antitrypsin Deficiency