Overview
Definition
Autosomal recessive genetic disorder affecting the CFTR gene, causing thick mucus.
Epidemiology
Most common fatal genetic disease in Caucasians.
Etiology & Risk Factors
- CFTR gene mutation (delta F508)
Clinical Symptoms
- Chronic productive cough
- Recurrent infections
- Malabsorption
- Salty skin
Clinical Approach
Diagnosis
- Sweat chloride test
- Genetic testing
Management
- CFTR modulators (e.g., Trikafta)
- Chest physiotherapy
- Pancreatic enzymes
Complications
- Bronchiectasis
- Pancreatic insufficiency
- Infertility