Association of alpha 1-antitrypsin deficiency with lung and liver diseases.
alpha(1)-Protease inhibitor (alpha(1)-Pi) deficiency is associated with emphysema, neonatal hepatitis and cirrhosis. The deficiency associated with emphysema has multiple alleles. Cigarette smoke may influence the onset of emphysema in a twofold manner: by overwhelming the concentration of alpha(1)-Pi by increasing elastase release, and by inactivating the alpha(1)-Pi active site through oxidation. alpha(1)-Pi-associated hepatic disease occurs primarily in children with the allele PiZZ, most of whom are asymptomatic although in a small percentage severe obstructive jaundice and fatal junvenile cirrhosis develop. Pharmacologic intervention and alpha(1)-Pi replacement therapy are being tested against alpha(1)-Pi-associated emphysema.
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D000328:Adult; D002648:Child; D002675:Child, Preschool; D006505:Hepatitis / Q000209:etiology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000209:etiology / Q000235:genetics; D008107:Liver Diseases / Q000209:etiology*; D008171:Lung Diseases / Q000209:etiology*; D008875:Middle Aged; D011656:Pulmonary Emphysema / Q000209:etiology / Q000235:genetics; D012907:Smoking / Q000009:adverse effects; D019896:alpha 1-Antitrypsin Deficiency