Cystic Fibrosis

Prevention, Early Detection, and Treatment

Prevention of CF is not currently possible, except through targeted population screening for carrier status and genetic counselling about CF risk before a couple conceives.

Early detection can be accomplished with CF gene mutation testing prenatally, using amniocentesis or chorionic villi collection procedures. A newborn screening program based on IRT testing and CF gene mutation testing is being introduced in an increasing number of countries and has been completed in the UK. Early identification of CF allows parents to get education, to be referred to a Specialist CF Centre for expert help, and to start early treatments in their infants to prevent or minimize lung damage and nutritional problems.

Treatments are currently aimed at preventing or lessening symptoms and improving quality of life. Future research is exploring gene therapy as a way to replace the defective CF genes and looking for ways around the protein defect, such as finding other chloride channel regulators to compensate.

Treatments to ease symptoms include:

• Medications: Aerosolised and inhaled medications are used to improve breathing, reduce respiratory swelling, and thin mucus. These include bronchodilators, including rhDNase (Pulmozyme), hypertonic saline and corticosteroids. Oral, intravenous, and aerosolized antibiotics that can be inhaled are used to fight frequent respiratory infections. 
• Chest physiotherapy (CPT): Bronchial, or postural, drainage is performed once or more a day by placing the patient in a position that allows mucus to drain from the lungs. The chest or back is then clapped (percussed) to dislodge the mucus. 
• Exercise: Exercise helps loosen mucus and also stimulates coughing to aid in its removal. 
• Oral pancreatic enzymes, Vitamin A, D, E, and K supplements, and a diet high in fat and protein, and high in calories help with gastrointestinal symptoms. 
• In vitro procedures in males with missing vas deferens aid in fertility. 
• Carefully monitored pregnancies are generally well tolerated in CF women with mild to moderate disease. 
• Lung transplants may be considered in some cases.