Hepatic endoplasmic reticulum storage diseases.
Endoplasmic Reticulum Storage Diseases (ERSD) represent a novel group of inborn errors of metabolism affecting secretory proteins and resulting in hepatocytic storage and plasma deficiency of the corresponding protein. The hepatocellular storage is due to a molecular abnormality hindering the translocation of the abnormal protein from the rough (RER) to the smooth endoplasmic reticulum (SER). The molecular abnormality is genetically determined; hence it is hereditary, congenital, familial and permanent. The storage is selective and exclusive for the mutant protein and predisposes to the development of chronic cryptogenic liver disease. ERSD include alpha-1-antitrypsin deficiency, fibrinogen storage and alpha-1-antichymotrypsin deficiency. Basically, the diagnosis of ERSD is a morphological one: immunohistochemistry and electron microscopy are essential tools for their identification.
Callea
F
F
Department of Pathology, Children's Hospital G. Gaslini, Genova, Italy.
Brisigotti
M
M
Fabbretti
G
G
Bonino
F
F
Desmet
V J
VJ
D000347:Afibrinogenemia / Q000235:genetics; D004721:Endoplasmic Reticulum / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000378:metabolism*; D008107:Liver Diseases / Q000235:genetics* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010641:Phenotype; D000514:alpha 1-Antichymotrypsin / Q000172:deficiency; D019896:alpha 1-Antitrypsin Deficiency
D000514:alpha 1-Antichymotrypsin