[Alpha 1 antitrypsin deficiency. Physiopathological consequences].
Alpha-1-antitrypsine, a glycoprotein synthesized in the liver, exists in different phenotypic variants. The Z allele, when heterozygotic, causes a diminution of protein in the blood; when homozygotic it causes an almost complete absence of blood protein. It appears that in instances of deficiency the hepatocyte is unable to secrete the protein it synthesizes, and this leads to intracellular accumulation of protein (visible on histological examination as granules of amorphic P.A.S.-positive material). The deficiency is accompanied by pulmonary manifestations of the destructive emphysematic type. The lesions are probably related to the absence of anti-protease activity in the lung tissues: proteolysis of the lung in animals reproduces the lesions observed in man. Studies on large populations have shown that, in people exhibiting a total or intermediate deficiency in alpha-1-antitrypsine, cigarette smoking represents a significant risk factor in that it increases the probability of parenchylmal destruction.
D001980:Bronchi / Q000503:physiopathology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008168:Lung / Q000503:physiopathology; D008661:Metabolism, Inborn Errors / Q000503:physiopathology*; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000209:etiology / Q000503:physiopathology; D012306:Risk; D012907:Smoking / Q000150:complications; D019896:alpha 1-Antitrypsin Deficiency
Le déficit en alpha1-entitrypsine. Conséquences physiopathologiques