Cystic fibrosis
Also called: CF
An inherited disease in which a faulty chloride channel (CFTR) makes secretions thick and sticky. Mucus clogs the lungs and pancreas, causing repeated infections and poor digestion.
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About 1 in 2,500 births in people of northern European ancestry.
Causes
- Two faulty copies of the CFTR gene (autosomal recessive); F508del is the most common mutation
Risk factors
- Both parents carrying a CFTR mutation
Symptoms
- Persistent cough and chest infections
- Poor weight gain
- Greasy, bulky stools
- Salty-tasting skin
- Bowel blockage in newborns (meconium ileus)
- Male infertility
Diagnosis — tests and examinations
- Newborn screening (heel-prick)
- Sweat chloride test
- Genetic testing
Treatment
Medicines and medical treatment
- CFTR modulators (elexacaftor–tezacaftor–ivacaftor) for eligible mutations — transformative
- Airway clearance and inhaled mucolytics (dornase alfa, hypertonic saline)
- Antibiotics, including inhaled
- Pancreatic enzyme replacement and high-calorie diet
- Vitamin supplements (A, D, E, K)
Operations and procedures
- Lung transplantation in end-stage disease
Self-care, home remedies and lifestyle
- Daily physiotherapy and exercise
- Infection control and avoiding cross-infection with other CF patients
Possible complications
- Bronchiectasis and respiratory failure
- CF-related diabetes
- Liver disease
- Infertility
- Osteoporosis
Prevention
- Carrier testing and genetic counselling
Outlook
Median life expectancy has risen to over 50 years and continues to improve with CFTR modulators.
When to see a doctor
Children with poor growth and recurrent chest infections should be assessed.
Sources and further reading
These sources cover this condition. They have not been checked against every statement on this page.
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