Resumo

BUSTAMANTE, Adriana Ester. Cystic fibrosis transmembrane conductance regulator modulators and novel therapeutics for cystic fibrosis treatment. Neumol. cir. torax [online]. 2024, vol.83, n.1, pp.6-12.  Epub 26-Maio-2025. ISSN 2594-1526.  https://doi.org/10.35366/118570.

Cystic fibrosis (CF) is a hereditary, autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. To date, more than 2,000 mutations or variants in this gene have been described. Historically, the treatment of CF focused on clinically managing the manifestations and complications resulting from CFTR protein dysfunction. The discovery of the gene and the mutations causing this disease has led to the development of drugs known as CFTR modulators, which restore and optimize the function of the defective protein. The objective of this publication is to conduct a review of these new medications and their impact on lung function, nutritional status, quality of life, and patient survival, serving as an example of personalized medicine.

Palavras-chave : cystic fibrosis; cystic fibrosis transmembrane conductance regulator modulators; personalized medicine.

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