[Alpha 1-antitrypsin deficiency and the liver (author's transl)]

Alpha 1-antitrypsin (alpha 1 AT) is a glycoprotein of hepatic origin which functions as a systemic protease inhibitor (Pi). Its production is controlled by two autosomal-codominantly transmitted alleles. Among the numerous genetic variants some alleles (predominantly PiZ) may induce alpha 1 AT-deficiency, facultatively associated with childhood liver disease. However, the pathogenesis of this congenital disorder, which may progress to complete cirrhosis remains obscure at present. In addition, no clear cut relationship has been proven between alpha 1 AT-deficiency and deranged liver architecture, observed in advanced aged adults. Possibly this may reflect a more accidental coincidence with the consequences of chronic viral hepatitis (Non A-Non B-type). Nevertheless, this hypothesis is hitherto unestablished as it holds for the supposed association between alpha 1 AT-deficiency and the occurrence of malignant hepatoma.