Article information
Resumo
O défice de alfa-1 antitripsina é uma doença hereditária autossómica codominante. O fenótipo Pi ZZ está associado com maior frequência à doença pulmonar, sendo responsável pelo aparecimento precoce de enfisema, sobretudo nos fumadores. Os autores apresentam dois casos de diagnóstico tardio e em que estiveram presentes outros factores que terão contribuído para o aparecimento de manifestações clínicas.
Rev Port Pneumol 2007; XIV (2): 295-302
Palavras-chave:
Défice de alfa-1 antitripsina
fenótipo Pi ZZ
enfisema
Abstract
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 author’s present two cases which diagnosis were performed later in life and in which other factors could be also responsible for clinical manifestations.
Rev Port Pneumol 2007; XIV (2): 295-302
Key-words:
Alpha-1 antitrypsin deficiency
phenotype Pi ZZ
emphysema
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Copyright © 2008. Sociedade Portuguesa de Pneumologia/SPP
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