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Vol. 14. Issue 2.
Pages 295-302 (March - April 2008)
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Vol. 14. Issue 2.
Pages 295-302 (March - April 2008)
Caso Clínico/Clinical Case
Open Access
Défice de alfa-1 antitripsina. A propósito de dois casos clínicos
Alpha-1 antitrypsin deficiency. Two cases report
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Sónia Serra1, Graça Banha2
1 Interna do Complementar de Medicina Interna, Serviço de Pneumologia, Centro Hospitalar de Setúbal, EPE, Rua Camilo Castelo Branco, 2910-446 Setúbal – Portugal
2 Assistente Hospitalar Graduada de Pneumologia, Serviço de Pneumologia, Centro Hospitalar de Setúbal, EPE, Rua Camilo Castelo Branco, 2910-446 Setúbal – Portugal
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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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