O Impacto da Terapêutica Moduladora da CFTR na Infeção Pulmonar Crónica em Doentes com Fibrose Quística

Joana Rodrigues; Rita Boaventura; Gabriela Fernandes; Adelina Amorim

doi:10.20344/amp.20106

Autores

Joana Rodrigues Faculdade de Medicina. Universidade do Porto. Porto.
Rita Boaventura Faculdade de Medicina. Universidade do Porto. Porto; Serviço de Pneumologia. Centro Hospitalar e Universitário São João. Porto.
Gabriela Fernandes Faculdade de Medicina. Universidade do Porto. Porto; Serviço de Pneumologia. Centro Hospitalar e Universitário São João. Porto.
Adelina Amorim Faculdade de Medicina. Universidade do Porto. Porto; Serviço de Pneumologia. Centro Hospitalar e Universitário São João. Porto.

DOI:

https://doi.org/10.20344/amp.20106

Palavras-chave:

Fibrose Quística/tratamento farmacológico, Infecções Respiratórias/tratamento farmacológico, Regulador de Condutância Transmembrana em Fibrose Quística/uso terapêutico

Resumo

A fibrose quística é a doença genética letal mais comum na população branca, afetando aproximadamente 80 000 pessoas em todo o mundo. É uma doença autossómica recessiva, monogenética e multissistémica, estando descritas mais de 2000 mutações no gene da proteína CFTR. A disfunção desta proteína leva à diminuição da secreção de cloro e de bicarbonato, hiperabsorção de sódio e consequentemente de água, resultando no espessamento das secreções e acumulação de agentes patogénicos. Estas alterações culminam em inflamação, infeção pulmonar crónica e agudizações recorrentes, sendo a doença pulmonar a principal causa de morbilidade e mortalidade. Nas fases iniciais da doença, o Staphylococcus aureus é, geralmente, o agente responsável pela infeção crónica. Com o tempo, a Pseudomonas aeruginosa vai adquirindo um papel mais preponderante, sendo a bactéria mais frequente nos adultos. Contudo, em até 70% dos doentes, a colonização é polimicrobiana, sendo frequente o isolamento de S. aureus e P. aeruginosa, associado a Haemophilus influenzae ou Streptococcus pneumoniae, bem como o isolamento de outros agentes bacterianos, vírus ou fungos. Nos últimos anos foram desenvolvidos fármacos moduladores da CFTR, que demonstraram efeito positivo na função pulmonar, índice de massa corporal, taxa de exacerbações, concentração de cloro e qualidade de vida. Atualmente, estão aprovados quatro fármacos que atuam melhorando a função ou aumentando a quantidade de proteína produzida e consequentemente o transporte dos iões. [...]

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