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. 1987 Jul;147(1):48–53.

Association of α1-Antitrypsin Deficiency With Lung and Liver Diseases

Mariela Resendes
PMCID: PMC1025813  PMID: 3321708

Abstract

α1-Protease inhibitor (α1-Pi) deficiency is associated with emphysema, neonatal hepatitis and cirrhosis. The deficiency associated with emphysema has multiple alleles. Cigarette smoke may influence the onset of emphysema in a twofold manner: by overwhelming the concentration of α1-Pi by increasing elastase release, and by inactivating the α1-Pi active site through oxidation. α1-Pi-associated hepatic disease occurs primarily in children with the allele PiZZ, most of whom are asymptomatic although in a small percentage severe obstructive jaundice and fatal junvenile cirrhosis develop. Pharmacologic intervention and α1-Pi replacement therapy are being tested against α1-Pi-associated emphysema.

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Selected References

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