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Cystic Fibrosis: the era of personalized treatments
19 février 2025
#CysticFibrosis #PrecisionMedicine #Lungs #Diagnosis #PersonalizedTherapy
Cystic fibrosis is a hereditary disease caused by mutations in the CFTR gene, leading to a dysfunction in chloride ion transport. This defect results in the production of thick and sticky mucus in multiple organs, particularly the lungs and digestive system. The accumulation of mucus promotes chronic lung infections, inflammation, and severe digestive disorders, progressively reducing both the quality of life and life expectancy of patients.
Cystic fibrosis is a hereditary disease caused by mutations in the CFTR gene, leading to a dysfunction in chloride ion transport. This defect results in the production of thick and sticky mucus in multiple organs, particularly the lungs and digestive system. The accumulation of mucus promotes chronic lung infections, inflammation, and severe digestive disorders, progressively reducing both the quality of life and life expectancy of patients.
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Scientific reference
Addissouky, T. A., et al. (2024). Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis. Journal of Rare Diseases, 3(1), 28
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