Adult alpha1-antitrypsin deficiency.

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.

journal_name

J Clin Pathol

authors

Sweeney EC

doi

10.1136/jcp.28.8.613

keywords:

subject

Has Abstract

pub_date

1975-08-01 00:00:00

pages

613-9

issue

8

eissn

0021-9746

issn

1472-4146

journal_volume

28

pub_type

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