Abstract
Cystic fibrosis (CF) is the most common life-limiting inherited disease in Caucasian populations, affecting approximately 80,000 people worldwide. CF is a complex multi-organ monogenic autosomal recessive disorder caused by a mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene. Since the discovery of the CFTR gene in 1989, more than 2000 mutations have been identified so far and about 240 can cause CF. Until recently, the treatment for CF was aimed to prevent and manage the manifestations of CFTR dysfunction, primarily recurrent pulmonary infections and pancreatic exocrine failure. Over the past few decades, the therapeutic approach to CF has been revolutionized by the development of a new class of small molecules called CFTR modulators that target specific defects caused by mutations in the CFTR gene. CFTR modulators have been shown to change profoundly the clinical course of the CF, leading to meaningful improvements in the lives of a large proportion of people of CF heterozygous for F508del, especially if started in young children. Further studies are needed to extend the use of triple CFTR modulation therapy also for young children in order to prevent the irreversible effects of the disease and for patients with very rare mutations with a personalized approach to treatment.
Highlights
Cystic fibrosis (CF) is the most common life-limiting inherited disease in Caucasian populations, affecting approximately 80,000 people worldwide [1,2]
CF is a complex multiorgan monogenic autosomal recessive disorder caused by a mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene on the long arm of chromosome 7 [2]
This gene encodes for an anion channel member of the ATP-binding cassette (ABC) proteins regulated by cyclic adenosine monophosphate and protein kinase A (PKA)-dependent phosphorylation responsible for chloride and bicarbonate passive transport through the apical membrane of epithelial cells
Summary
Cystic fibrosis (CF) is the most common life-limiting inherited disease in Caucasian populations, affecting approximately 80,000 people worldwide [1,2]. A defective CFTR function causes a reduced anion secretion through the lumen of airways and digestive system with consequent impaired hydration of their secretions. In airways, sodium absorption, of which the CFTR protein is a down-regulator, contributes to the surface dehydration and impaired mucociliary clearance observed in CF patients. Pharmaceuticals 2021, 14, 928 in airways, sodium absorption, of which the CFTR protein is a down-regulator, contributes to the surface dehydration and impaired mucociliary clearance observed in CF patients. Impaired function of the CFTR gene causes a pancreatic liver damage, increased sweat chlorideof mucus concentration, wide range ofinsufficiency, symptoms, including thickened mucous with formation plugs, malabsorption with malnutrition, and infertility [2]. That target by the development of a new class of small molecules called “CFTR modulators” that specific defects caused by mutations in the CFTR gene. Including randomized controlled trials (RCT) and preclinical studies of potentiators and correctors
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