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Revista Portuguesa de Pneumologia
Print version ISSN 0873-2159
Abstract
SERRA, Sónia and BANHA, Graça. Alpha-1 antitrypsin deficiency: Two cases report. Rev Port Pneumol [online]. 2008, vol.14, n.2, pp.295-302. ISSN 0873-2159.
The alpha-1 antitrypsin deficiency is an hereditary autosomic codominant disease. The phenotype Pi ZZ is associated more frequently with pulmonary disease and is responsible for the presence of emphysema early in life, particularly in smokers. The authors present two cases which diagnosis were performed later in life and in which other factors could be also responsible for clinical manifestations.
Keywords : Alpha-1 antitrypsin deficiency; phenotype Pi ZZ; emphysema.