Alpha-1-antitrypsin deficiency
R Bals - Best Practice & Research Clinical Gastroenterology, 2010 - Elsevier
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the
development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by
hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes
can result in liver disease. Exposure to smoke is the major risk factor for the development of
lung disease characterised as early chronic obstructive lung disease (COPD). Diagnosis is
based on the analysis of the AAT genotype and phenotype. The measurement of the AAT …
development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by
hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes
can result in liver disease. Exposure to smoke is the major risk factor for the development of
lung disease characterised as early chronic obstructive lung disease (COPD). Diagnosis is
based on the analysis of the AAT genotype and phenotype. The measurement of the AAT …