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α 1 ‐antitrypsin deficiency and liver disease
Author(s) -
Birrer P.,
McElvaney N. G.,
ChangStroman L. M.,
Crystal R. G.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01797921
Subject(s) - liver transplantation , alpha 1 antitrypsin deficiency , pathogenesis , liver disease , disease , neutrophil elastase , exon , medicine , biology , gene , immunology , transplantation , pathology , genetics , inflammation
Summary α 1 ‐Antitrypsin (α 1 AT) deficiency, one of the most common lethal hereditary disorders among Caucasians, is associated with emphysema in adults, while in children it is associated with liver disease. Produced in the liver and released into the plasma, α 1 AT serves as the body's major inhibitor of neutrophil elastase, a powerful proteolytic enzyme capable of degrading extracellular structural proteins. The pathogenesis of the liver disease associated with α 1 AT deficiency is not as well understood, but is clearly linked to specific mutations in coding exons of the α 1 AT gene, and the resulting accumulation of α 1 AT within hepatocytes. At present, therapy for the liver disease associated with α 1 AT deficiency is symptomatic, with liver transplantation as a last resort. New strategies are being developed to suppress the accumulation of α 1 AT by transferring the normal gene into the liver.