Cystic fibrosis causes respiratory and digestive complications via CFTR gene mutations

Cystic fibrosis is a rare hereditary genetic disorder caused by mutations in the CFTR gene, which regulates the transport of salt and water in cells. This mutation leads to the production of thick, sticky mucus that primarily affects the respiratory and digestive systems.

As an autosomal recessive condition, an individual must inherit one altered copy of the CFTR gene from each parent to develop the disease. Parents can be asymptomatic carriers, meaning they possess one altered gene but do not show symptoms, yet can still pass the condition to their children. In Chile, the estimated incidence is approximately one case per 6,000 to 8,000 live births.

Clinical manifestations include persistent coughing, recurrent respiratory infections, difficulty breathing, and digestive issues such as impaired pancreatic function and nutrient malabsorption. Diagnosis often involves sweat tests to measure chloride concentration and genetic studies. Management is multidisciplinary and personalized, involving respiratory physiotherapy, nutritional support, infection management, and, in some cases, CFTR protein modulators.