[Alpha-1 antitrypsin deficiency].
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.
HYKS, iho- ja allergiasairaala, allergiayksikkö.
Paula
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Kauppi
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Jokelainen
D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D011656:Pulmonary Emphysema / Q000209:etiology*; D012307:Risk Factors; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics