Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.
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.
Kelly
C P
CP
Department of Clinical Medicine, Trinity College, Dublin, Ireland.
Tyrrell
D N
DN
McDonald
G S
GS
Whitehouse
D B
DB
Prichard
J S
JS
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