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  • Title: [Alpha-1 antitrypsin deficiency].
    Author: Kauppi P, Jokelainen K.
    Journal: Duodecim; 2011; 127(18):1911-8. PubMed ID: 22034728.
    Abstract:
    Alpha-1 antitrypsin deficiency is a hereditary metabolic disorder predisposing its carrier to lung and liver damage. Organ damage results from decreased secretion of alpha-1 antitrypsin from hepatocytes to circulation, caused by a genetic mutation. Decreased alpha-1 antitrypsin level predisposes to early-onset pulmonary emphysema. Unsecreted alpha-1 antitrypsin accumulating into hepatocytes may in turn lead to an inflammatory reaction, increase in fibrous tissue and finally to liver cirrhosis.
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