Alpha 1-antitrypsin deficiency: pathogenesis and treatment.
Inherited defects of the gene coding for a serum protein that protects alveolar walls from proteolysis constitute one cause of emphysema, with or without liver disease. The deficiency can be reversed with intravenous administration of the antiprotease, keeping serum levels above the minimum needed for lung protection.
Crystal
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Pulmonary Branch, National Heart, Lung, and Blood Institute, Bethesda.
D000483:Alleles; D002779:Cholestasis / Q000209:etiology / Q000378:metabolism; D003677:Deficiency Diseases / Q000175:diagnosis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000201:enzymology; D010196:Pancreatic Elastase / Q000378:metabolism; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000209:etiology / Q000378:metabolism; D000515:alpha 1-Antitrypsin / Q000235:genetics / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; D010196:Pancreatic Elastase