Article
[Alpha-1 antitrypsin deficiency: diagnosis and treatment].
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia - 1 Jul 2008
Camelier Aquiles A, Winter Daniel Hugo, Jardim José Roberto, Barboza Carlos Eduardo Galvão, Cukier Alberto, Miravitlles Marc
Abstract excerpt
Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The mutation most commonly...
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