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Quick Take: Liver Fibrosis and Metabolic Alterations in Adults with Alpha1 Antitrypsin Deficiency Caused by the Pi*ZZ Mutation

11:55 EDT 29 May 2019 | 2 Minute Medicine

Alpha-1 antitrypsin (AAT) is a major protease inhibitor responsible for the inhibition of neutrophil elastase and proteinase 3. Alpha-1 antitrypsin deficiency (AATD) is a genetic disease that can lead to accelerated destruction of lung parenchyma and accumulation of AAT in hepatocytes. Severe AATD is caused mainly by the homozygous Pi*Z (Glu342Lys) mutation. While lung disease […]
Source: 2 Minute Medicine

Original Article: Quick Take: Liver Fibrosis and Metabolic Alterations in Adults with Alpha1 Antitrypsin Deficiency Caused by the Pi*ZZ Mutation

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