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  • Title: Cirrhosis associated with homozygous alpha-1 antitrypsin deficiency in the adult: a case report.
    Author: Chibbaro G, Bartoloni Saint Omer F, offtti A, Nucci A, Verdiani V.
    Journal: Ital J Gastroenterol; 1991 May; 23(4):216-8. PubMed ID: 1751819.
    Abstract:
    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.
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