Fibrose quística: Revisão

Cystic fibrosis: Review

 

C Damas 1

A Amorim 2

I Gomes 3

 

 

Resumo

A fibrose quística (FQ) é a doença autossómica recessiva mais frequente na raça caucasiana. Caracteriza-se por mutações na CFTR, uma proteína transmembranar responsável pelo transporte de cloretos. Esta proteína tem uma ampla distribuição epitelial, o que dá um carácter

sistémico a esta doença e consequentemente múltiplas manifestações clínicas de gravidade variável. A melhoria dos cuidados de saúde, associada ao desenvolvimento do arsenal terapêutico, permitiu um aumento da sobrevida destes doentes, de tal forma que a FQ já não pode ser abordada como doença da idade pediátrica. Também a evolução técnica na transplantação abriu novas perspectivas quanto ao tratamento desta afecção. Assim, cada vez mais esta patologia implica um envolvimento multidisciplinar no qual a pneumologia tem uma parte preponderante.

Palavras-chave: Fibrose quística, revisão.

 

 

Abstract

Cystic Fibrosis (CF) is the recessive autossomic disease more frequent in the caucasian race. The main characteristic is a mutation in CFTR, a trans-membranar protein, responsible for chlorates transportation. This protein has a diffuse epithelial distribution, which gives a multissistemic involvement to this disease, with clinical manifestations with variable degrees of severity. The development of better health care associated with new therapeutic options became responsible for an increase of survival, so CF is no longer a paediatric disease. Lung transplantation also has an important role, bringing new treatment perspectives. So, this pathology has an increased multi-disciplinary involvement in which the pulmonologist have a preponderant role.

Key-words: Cystic fibrosis, review.

 

 

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1 Interna complementar de pneumologia

2 Assistente hospitalar de pneumologia

3 Assistente hospitalar graduada de pneumologia

Serviço de Pneumologia do Hospital de São João, Porto

Director: Prof. Doutor V P Hespanhol

Alameda Hernâni Monteiro

4200 Porto

 

Contacto: Carla Damas

Travessa Fernando Namora 48 5.º esq

4425 Pedrouços – Maia

 

Recebido para publicação/received for publication: 07.01.15

Aceite para publicação/accepted for publication: 07.09.19