🧬 Cystic Fibrosis (CF)
Cystic fibrosis is a genetic, life-shortening disease that affects the lungs, digestive system, and other organs. It causes the body to produce abnormally thick and sticky mucus, which clogs airways and traps bacteria, leading to repeated lung infections, lung damage, and breathing problems.
🧪 Cause
- Cystic fibrosis is caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator).
- This gene regulates the movement of salt and water in and out of cells.
- In CF, a faulty CFTR protein leads to thick, sticky secretions.
✅ It is inherited in an autosomal recessive pattern, meaning a person must inherit one faulty gene from each parent to have the disease.
📋 Common Symptoms
Respiratory System
- Chronic, persistent cough
- Recurrent lung infections (e.g., pneumonia, bronchitis)
- Wheezing or shortness of breath
- Bronchiectasis (permanent airway damage)
- Nasal polyps or chronic sinus infections
Digestive System
- Poor weight gain despite a good appetite
- Greasy, bulky stools or diarrhea (due to poor fat absorption)
- Pancreatic insufficiency (enzymes don’t reach intestines)
- CF-related diabetes (in many adults)
- Intestinal blockage (especially in newborns)
Other Symptoms
- Infertility in most men (due to absence of vas deferens)
- Salty-tasting skin (high chloride in sweat)
🩺 Diagnosis
Newborn Screening (in many countries)
- Detects high levels of immunoreactive trypsinogen (IRT)
Confirmatory Tests
- Sweat test: Measures chloride level in sweat (a high level confirms CF)
- Genetic testing: To identify CFTR gene mutations
💊 Treatment and Management
CF is complex and requires lifelong, multi-system care.
1. Airway Clearance
- Chest physiotherapy (percussion and postural drainage)
- Inhaled medications (mucus thinners like hypertonic saline, dornase alfa)
- Bronchodilators
- Antibiotics (oral, inhaled, IV for infections)
2. CFTR Modulator Therapies
- Target the defective CFTR protein, improving function
- Examples: Trikafta, Kalydeco, Symdeko, Orkambi
(Type depends on the patient’s specific CFTR mutations)
3. Digestive Support
- Pancreatic enzyme supplements (e.g., Creon)
- High-calorie, high-protein diet
- Fat-soluble vitamin supplements (A, D, E, K)
- Treatment for CF-related diabetes if needed
4. Other
- Regular vaccinations (flu, pneumonia, COVID-19)
- Lung transplant (in advanced lung failure)
🔄 Prognosis
- In the past, life expectancy was very low.
- Today, with modern treatments (especially CFTR modulators), many patients live into their 40s, 50s, or beyond, with improving quality of life.