Article
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia - 1 Jan 2000
Jardim José R, Casas-Maldonado Francisco, Fernandes Frederico Leon Arrabal, Castellano Maria Vera Cruz de O, Torres-Durán María, Miravitlles Marc
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis is essential for implementing preventive measures and limiting the disease burden. Although national and international guidelines for the diagnosis and management of...
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