Abstract
AbstractSevere alpha1-antitrypsin (AAT) deficiency is an autosomal recessive genetic disease characterized by low serum level. Its prevalence varies within Europe, affecting approximately one in 1500 to 6000 individuals. Its clinical manifestations are pulmonary with the development of chronic obstructive pulmonary disease, and hepatic, with damage that can progress to cirrhosis. AAT is the main plasma proteases inhibitor and its anti-elastasic activity protects lung parenchyma against proteolytic enzymes. Current management of the deficit is based on supplementation therapy in patients with respiratory disease and the implementation of health and diet measures.
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