Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to the production of thick and sticky mucus that clogs the airways and obstructs the normal flow of digestive enzymes.
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It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to the production of thick and sticky mucus that clogs the airways and obstructs the normal flow of digestive enzymes. This mucus buildup can result in frequent lung infections, difficulty in breathing, and poor nutrient absorption. CF is typically diagnosed in early childhood through genetic testing or newborn screening programs, and treatment involves a multidisciplinary approach aimed at managing the symptoms and slowing down the progression of the disease. This includes administration of medications to clear mucus from the airways, prevent and treat infections, improve lung function, and support enzyme replacement to aid digestion. While there is currently no cure for CF, advancements in medical treatments and therapies have significantly improved the life expectancy and quality of life for individuals with CF. In recent years, the development of specific CFTR modulator medications has shown great promise in targeting the underlying genetic defect and improving lung function for certain CF mutations. The incidence of CF varies globally, with higher prevalence in individuals of Northern European ancestry. However, the disease can affect people of all ethnicities. Ongoing research efforts are focused on further understanding the genetic basis of CF, developing new therapies, and improving treatment options to enhance the lives of individuals living with this chronic condition.