1 in 25 people carry the mutation - autosomal recessive. Mutation in CFTR gene on chromosome 7
Causes/Factors
Purely genetic condition, mutation leads to defect in chloride ion channel causing thickened mucus
Clinical Features
- Neonates: failure to thrive, rectal prolapse
- Children: cough, wheeze, recurrent infections, bronchiectasis, pneumothorax, haemoptysis
- Adult: male infertility, osteoporosis, Osteoarthritis, vasculitis, abnormal bowel movements
- Loss of Islets of Langerhans cells (Insulin) → CF related diabetes
- clubbing of fingers
- Cyanosis
Diagnostic Tests
- Sweat test: high levels of NaCl present in sweat
- Genetic screening
Management
- Multidisciplinary
- Physiotherapy - airway clearance techniques
- Antibiotics for recurrent infections
- Nebulised mucolytics (DNase) / saline
- Bronchodilators
Complications/red Flags
- Low prognosis - median ~41 years