Liver, lung and malignant disease in heterozygous (Pi MZ) alpha1-antitrypsin deficiency.
Theoccurrence of PAS-positive, diastase-resistant, inclusion bodies in hepatocytes has been used as a marker of heterozygous (Pi MZ) alpha1-antitrypsin deficiency in order to study the frequency of lung, liver and malignant disease in a consecutive autopsy material from a well defined population. Typical PAS-positive inclusion bodies were found in the liver in 26 (3.7%) of the 700 cases studied. In these 26 subjects both liver (cirrhosis or fibrosis) and lung disease (emphysema) were significantly more prevalent (p less than 0.001) than among PAS-negative controls. The prevalence of malignant disease did not differ between the groups. The results are consistent with the concept that heterozygous (Pi MZ) alpha1-antitrypsin deficiency predisposes to both liver and lung disease but does not influence the survival rate.
D000368:Aged; D000636:Aminosalicylic Acids; D001344:Autopsy; D001796:Blood Protein Disorders / Q000150:complications; D006579:Heterozygote; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000032:analysis; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics; D008171:Lung Diseases / Q000201:enzymology* / Q000235:genetics; D008403:Mass Screening; D008875:Middle Aged; D019896:alpha 1-Antitrypsin Deficiency
D000636:Aminosalicylic Acids