REVIEW: α1-Antitrypsin deficiency associated liver disease

Authors

  • DONGFENG QU,

    1. Departments of Pediatrics, Cell Biology and Physiology, Washington University School of Medicine, Division of Gastroenterology and Nutrition, St Louis Children's Hospital, St Louis, Missouri, USA
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  • JEFFREY H TECKMAN,

    1. Departments of Pediatrics, Cell Biology and Physiology, Washington University School of Medicine, Division of Gastroenterology and Nutrition, St Louis Children's Hospital, St Louis, Missouri, USA
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  • DAVID H PERLMUTTER

    Corresponding author
    1. Departments of Pediatrics, Cell Biology and Physiology, Washington University School of Medicine, Division of Gastroenterology and Nutrition, St Louis Children's Hospital, St Louis, Missouri, USA
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Dr David H Perlmutter, Department of Pediatrics, Washington University School of Medicine, One Children's Place, St Louis, MO 63110, USA.

Abstract

α1-Antitrypsin (α1-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 α1-AT deficiency develop clinically significant liver injury. Other studies have shown that the mutant α1-AT Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of α1-AT-deficient individuals may be susceptible to liver injury because they also have a trait that reduces the efficiency by which the mutant α1-AT Z molecule is degraded in the endoplasmic reticulum.

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