title: Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.
abstract: A patient with advanced emphysema and cor pulmonale had the changes of alpha 1 antitrypsin deficiency in a liver biopsy specimen and was shown to have the phenotype PiFZ. This case supports the contention that the F allele of alpha 1 antitrypsin predisposes to the development of emphysema, particularly when it occurs in conjunction with the Z allele.
authors.affiliation: Department of Clinical Medicine, Trinity College, Dublin, Ireland.
authors.forename: C P
authors.initials: CP
authors.lastname: Kelly
authors.forename: D N
authors.initials: DN
authors.lastname: Tyrrell
authors.forename: G S
authors.initials: GS
authors.lastname: McDonald
authors.forename: D B
authors.initials: DB
authors.lastname: Whitehouse
authors.forename: J S
authors.initials: JS
authors.lastname: Prichard
mesh_terms: D004646:Emphysema / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000150:complications* / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011660:Pulmonary Heart Disease / Q000150:complications; D019896:alpha 1-Antitrypsin Deficiency