期刊
GENES
卷 14, 期 10, 页码 -出版社
MDPI
DOI: 10.3390/genes14101966
关键词
cystic fibrosis; gene polymorphisms; CFTR; CFTR modulator therapy; lung disease; airway epithelial cells; macrophages; neutrophils
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. The severity of the disease in patients is influenced by genetic and environmental factors. Lung inflammation plays a crucial role in cystic fibrosis lung disease, and CFTR modulator therapies can improve the inflammatory process, but individual responses may vary.
Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembrane Conductance Regulator (CFTR) gene harbored on chromosome 7. In people with CF (PWCF), lung disease is the major determinant of morbidity and mortality and is characterized by a clinical phenotype which differs in the presence of equal mutational assets, indicating that genetic and environmental modifiers play an important role in this variability. Airway inflammation determines the pathophysiology of CF lung disease (CFLD) both at its onset and progression. In this narrative review, we aim to depict the inflammatory process in CF lung, with a particular emphasis on those genetic polymorphisms that could modify the clinical outcome of the respiratory disease in PWCF. The natural history of CF has been changed since the introduction of CFTR modulator therapies in the clinical arena. However, also in this case, there is a patient-to-patient variable response. We provide an overview on inflammatory/immunity gene variants that affect CFLD severity and an appraisal of the effects of CFTR modulator therapies on the inflammatory process in lung disease and how this knowledge may advance the optimization of the management of PWCF.
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