title: Liver disease and the PI ElembergM phenotype of alpha 1-antitrypsin.
abstract: The purpose of this article is to document clinical and pathologic observations concerning liver disease associated with the PI ElembergM phenotype of alpha 1-antitrypsin. Deposits of alpha 1-antitrypsin that were periodic acid-Schiff positive and stained with an antiserum to alpha 1-antitrypsin were found in the liver of a markedly jaundiced, terminally ill patient with Stage IV primary biliary cirrhosis. A biopsy performed three years earlier failed to reveal alpha 1-antitrypsin deposits. The phenotype PI ElembergM was verified by both acid starch gel electrophoresis and isoelectric focusing in agarose. The deposits of alpha 1-antitrypsin in the liver appear to be a consequence of the patient's disease and age and not due to an association with the PI*Elemberg allele. Accumulation of alpha 1-antitrypsin in the liver of this patient may be due to an accelerated synthesis of this protease inhibitor exceeding the liver's capacity for glycosylation or other steps in its secretion.
mesh_terms: D004592:Electrophoresis, Starch Gel; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007124:Immunoenzyme Techniques; D007525:Isoelectric Focusing; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000302:isolation & purification
chemical_list: D000515:alpha 1-Antitrypsin