Cystic Fibrosis (CF)
Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. It leads to the production of thick, sticky mucus that clogs airways and ducts, especially in the lungs and pancreas.
It is a lifelong, progressive condition, but treatments have greatly improved life expectancy and quality of life in recent years.
🧬 Cause
- Caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator).
- The CFTR protein regulates salt and water movement in and out of cells.
- Faulty CFTR causes mucus buildup in the lungs and other organs.
🧬 Inheritance: Autosomal recessive – a child must inherit two defective CFTR genes (one from each parent).
⚠️ Symptoms
Symptoms vary in severity and can affect multiple organs:
🫁 Respiratory System
- Chronic cough with thick mucus
- Wheezing, shortness of breath
- Frequent lung infections (e.g., pneumonia, bronchitis)
- Nasal polyps or sinusitis
🍽️ Digestive System
- Poor growth or weight gain (despite eating well)
- Greasy, bulky stools or constipation
- Pancreatic enzyme deficiency leading to poor nutrient absorption
- Diabetes (CFRD – CF-related diabetes)
- Liver disease or intestinal blockage
💦 Other Signs
- Salty-tasting skin
- Infertility in males
- Clubbing of fingers and toes (due to chronic low oxygen)
🧪 Diagnosis
| Test | Purpose |
|---|---|
| Newborn screening | Detects early signs (enzyme or immunoreactive trypsin level) |
| Sweat test | Measures chloride levels in sweat (high = CF) – gold standard |
| Genetic testing | Identifies CFTR gene mutations |
| Lung function tests, chest X-rays | Monitor disease progression |
💊 Treatment
🫁 Airway & Lung Care
- Airway clearance techniques (chest physiotherapy, percussion)
- Mucus-thinning drugs: Dornase alfa (Pulmozyme), hypertonic saline
- Bronchodilators: Albuterol
- Antibiotics: Oral, inhaled, or IV (to treat lung infections)
- Anti-inflammatory meds
💊 CFTR Modulators (for certain mutations):
- Trikafta, Kalydeco, Symdeko, Orkambi
- These drugs improve CFTR protein function in eligible patients
🍽️ Digestive Support
- Pancreatic enzyme supplements
- High-calorie, high-protein diet
- Fat-soluble vitamin supplements (A, D, E, K)
- Manage CF-related diabetes or liver problems
🫁 Advanced Therapies
- Oxygen therapy
- Lung transplant in end-stage disease
🛡️ Prognosis & Outlook
- Life expectancy: Many now live into their 40s, 50s, and beyond, especially with early diagnosis and treatment.
- Regular follow-up at a CF care center improves outcomes.
✅ Key Facts
- Cystic fibrosis is a genetic, life-shortening disorder affecting lungs and digestion
- Caused by a mutation in the CFTR gene
- Early diagnosis and modern treatments can greatly improve quality of life
- CFTR modulators have revolutionized care for many patients