Défice de alfa-1 antitripsina. A propósito de dois casos Clínicos

 

Alpha-1 antitrypsin deficiency. Two cases report

 

Sónia Serra¹

Graça Banha²

 

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.

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.

Key-words: Alpha-1 antitrypsin deficiency, phenotype Pi ZZ, emphysema.

 

Texto completo disponível apenas em PDF.

Full text only available in PDF format.

 

Bibliografia

1. American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Antitrypsin Deficiency. Am J Respir Crit Care Med 2003; 168:818 -900.        [ Links ]

2. de Serres FJ. Worldwide racial and ethnic distribution of alpha -1 -antitrypsin deficiency: details of an analysis of published genetic epidemiological surveys. Chest 2002; 122:1818 -29.

3. Hutchison DC. á1 -Antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998;92:367 -77.

4. de Serres FJ, Blanco I, Bustillo EF. Genetic epidemiology of alpha -1 antitrypsin deficiency: France, Italy, Portugal and Spain. Clin Genet 2003; 63:490 -509.

5. Larsson C. Natural history and life expectancy in severe Alpha1 -antitrypsin deficiency, PiZ. Acta Med Scand 1978; 204:345 -51.

6 . Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha -1 antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138:327 -36.

7. Kelada SN, Eaton DL, Wang SS, Rothman NR, Khoury MJ. The role of genetic polymorphisms in envidéfice ronmental health. Environ Health Perspect 2003; 111:1055 -1064.

8. Eden E, Mitchell D, Mehlman B, Khouli H, Mejat M, Grieco MH, Turino GM. Atopy, asthma and emphysema in patients with severe alpha -1 -antitrypsin deficiency. Am J Respir Crit Care Med 1997;156:68 -74.

9 . M Needhmam, RA Stockley. á1 -antitrypsin deficiency. Clinical manifestations and natural history. Thorax 2004; 59:441 –5.

10. Mahadeva R, Lomas DA. Genetics and respiratory disease. 2. Alpha1 -antitrypsin deficiency, cirrhosis and emphysema. Thorax 1998;53:501 -5.

11. Michael A. Campos, Adam Wanner, Guoyam Zhang, Robert A. Sandhaus. Trends in the diagnosis of symptomatic patients with á1 - Antitrypsin deficiency between 1968 and 2003. Chest 2005; 128:1179 -86.

12. James K. Stoller, Robert A. Sandhaus, Gerard Turino, Ryan Dickson, Keith Rodgers, Charlie Strange.  Delay in diagnosis of á1 - Antitrypsin deficiency. A continuing problem. Chest 2005; 128:1989 -94.

13. Seersholm N, Kok -Jensen A, Dirksen A. Survival of patients with severe á1 -antitrypsin deficiency with special reference to non -index cases. Thorax 1994; 49: 695 -8.

14. Piitulainen E, Eriksson S. Decline in FEV1 rotated to smoking status in individuals with severe alpha1- antitrypsin deficiency (PiZZ). Eur Respir J 1999; 13:247 -51.

15. Seersholm N, Dirksen A, Kok - Jensen A. Airways obstruction and two year survival in patients with severe alpha1 -antitrypsin deficiency. Eur Respir J 1994; 7: 1985 -7.

16 . Pierce JA. Antitrypsin and emphysema. Perspective and prospects. JAMA 1988; 259:2890 -5.

17. Talecris Biotherapeutics, Inc.; Alpha1 -Proteinase Inhibitor (Human). Prolastin®. Resumo das características do medicamento.

 

¹ Interna do Complementar de Medicina Interna

² Assistente Hospitalar Graduada de Pneumologia

Serviço de Pneumologia. Directora: Dr.ª Paula Duarte

Centro Hospitalar de Setúbal, EPE

Rua Camilo Castelo Branco

2910-446 Setúbal – Portugal

 

Recebido para publicação/Received for publication: 07.10.01

Aceite para publicação/accepted for publication: 07.10.26