Adult alpha1-antitrypsin deficiency. Issue 8 (August 1975)

• Record Type: Journal Article
• Authors: Sweeney, E C
• Is Part Of: Journal of clinical pathology. Volume 28:Issue 8(1975)
• Page Start: 613
• Page End: 619
• Publication Date: 1975-08
• Subjects: Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jcp.28.8.613
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : 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.