α1-Antitrypsin Deficiency

Part of the Molecular Pathology Library book series (MPLB, volume 5)


The classical form of α1-antitrypsin (AT) deficiency, homozygous for the Z allele, is the most common genetic cause of liver disease in children and the most frequent genetic disease for which people undergo liver transplantation. As a cause of chronic hepatitis, cryptogenic cirrhosis, and hepatocellular carcinoma with new onset in the adult, this diagnosis has been under-appreciated. Among the liver diseases it has a unique and fascinating pathobiology, related to the hepatotoxic consequences of an aggregation-prone mutant protein.


Endoplasmic Reticulum Liver Disease Liver Injury Unfold Protein Response Single Nucleotide Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of Pittsburgh School of Medicine, Children’s Hospital of Pittsburgh of UPMCPittsburghUSA

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