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Case Reports
. 1975 Aug;28(8):613-9.
doi: 10.1136/jcp.28.8.613.

Adult alpha1-antitrypsin deficiency

E C Sweeney
Case Reports

Adult alpha1-antitrypsin deficiency

E C Sweeney. J Clin Pathol. 1975 Aug.

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.

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