Cirrhosis associated with homozygous alpha-1 antitrypsin deficiency in the adult: a case report.
A 34 year old woman admitted to the department of Gastroenterology of Florence hospital was diagnosed as suffering from liver cirrhosis with an alpha-1 antitrypsin deficiency (PiZZ phenotype). Liver biopsy showed the presence of intra-hepatocyte PAS-positive inclusions and the presence of alpha-1 antitrypsin was confirmed using the immunoperoxidase technique. No other organ appeared to be affected and respiratory function tests were within normal limits. The quantitative assay of alpha-1 antitrypsin was higher than values reported in the literature for PiZZ homozygotes. The authors report the case and discuss some aspects of this disease.
Chibbaro
G
G
Unità Operativa di Gastroenterologia e Università di Firenze, Italy.
Bartoloni Saint Omer
F
F
offtti
A
A
Nucci
A
A
Verdiani
V
V
D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin