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REVIEW: α 1 ‐Antitrypsin deficiency associated liver disease
Author(s) -
QU DONGFENG,
TECKMAN JEFFREY H,
PERLMUTTER DAVID H
Publication year - 1997
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.1997.tb00451.x
Subject(s) - alpha 1 antitrypsin deficiency , endoplasmic reticulum , cirrhosis , medicine , hepatocellular carcinoma , liver disease , liver transplantation , mutant , population , disease , alpha (finance) , gastroenterology , transplantation , genetics , gene , biology , surgery , environmental health , construct validity , patient satisfaction
α 1 ‐Antitrypsin (α 1 ‐AT) deficiency is the most common genetic cause of liver disease in children and genetic disease for which children undergo liver transplantation. It also causes cirrhosis and hepatocellular carcinoma in adults. Studies by Sveger in Sweden have shown that only a subgroup of the population with homozygous PiZZ α 1 ‐AT deficiency develop clinically significant liver injury. Other studies have shown that the mutant α 1 ‐AT Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of α 1 ‐AT‐deficient individuals may be susceptible to liver injury because they also have a trait that reduces the efficiency by which the mutant α 1 ‐AT Z molecule is degraded in the endoplasmic reticulum.