[Pulmonary emphysema and hepatic involvement by alpha-1 antitrypsin deficiency in two adults with a PiZ phenotype (author's transl)].
Two unreleated adult males were found to be suffering from an association of pan-lobular severe emphysema and hepatomegally of unknown origin which led to the discovery of a marked deficit in alpha-1 antitrypsin (A1-AT) in relation to a PiZ phenotype. Liver biopsy revealed cirrhosis with portal fibrosis in one case and in both cases fatty infiltration with the accumulation of a glycoprotein antigenically identical to A1-AT. Electron microscopy showed this protein to be situated within the dilated lumina of the endoplasmic reticulum of the hepatocytes. A1-AT deficiency is usually associated with pulmonary involvement only in the adult and liver involvement only in the child. The association of the two remains rare--hence the interest of the two cases reported.
D000328:Adult; D006529:Hepatomegaly / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011480:Protease Inhibitors; D011656:Pulmonary Emphysema / Q000150:complications* / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D011480:Protease Inhibitors
Emphysème pulmonaire et atteinte hépatique par déficit en alpha 1-antitrypsine chez deux adultes de phénotype PiZ.