The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--.
The ultrastructural appearance of the endoplasmic reticulum of the hepatocytes was found to be normal in a 5-year-old girl with alpha-1-antitrypsin deficiency with the genotype Pi--. The liver ultrastructure of this variant is therefore different from that of alpha-1-antitrypsin deficiency with the genotype PiZZ in which aggregates of an abnormal, unsecreted alpha-1-antitrypsin accumulate in the endoplasmic reticulum of the hepatocytes. The normal appearance of the endoplasmic reticulum in alpha-1-antitrypsin deficiency with the genotype Pi-- is compatible with the hypothesis, in this variant, synthesis of alpha-1-antitrypsin is completely, or nearly completely, absent; an alternative hypothesis would be that an abnormal alpha-1-antitrypsin is produced by the liver and secreted into the plasma, but disappears rapidly from the plasma.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications; D002675:Child, Preschool; D003593:Cytoplasm / Q000648:ultrastructure; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005838:Genotype; D006801:Humans; D008099:Liver / Q000473:pathology / Q000648:ultrastructure*; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D008362:Mannosides / Q000096:biosynthesis; D008930:Mitochondria, Liver / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D008362:Mannosides; D000515:alpha 1-Antitrypsin