Cystic Fibrosis

Cystic fibrosis (CF) is a life-threatening genetic disorder that primarily affects the respiratory and digestive systems due to a malfunction in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene is responsible for controlling the movement of salt and water in and out of cells. In CF, mutations in the CFTR gene lead to the production of a defective protein, which results in thick, sticky mucus build-up in various organs. The most commonly affected areas are the lungs, pancreas, liver, and intestines.

This excessive mucus build-up hampers the functioning of these organs. In the lungs, it causes severe breathing difficulties and chronic respiratory infections, which over time can lead to respiratory failure. Pancreatic function is also compromised, leading to malabsorption and malnutrition due to the inability to break down and absorb nutrients. Patients with CF typically require rigorous daily treatments that include chest physiotherapy, inhaled medications, and pancreatic enzyme supplements. Despite advances in medical care and the development of CFTR modulators that can correct the function of the defective protein in some individuals, there is currently no cure for CF, and it significantly shortens the life expectancy of those affected.