Cystic Fibrosis (CF) is a chronic, progressive, and life-shortening genetic disorder that primarily affects the lungs and digestive system. It is caused by a defect in the CFTR gene, which disrupts chloride transport, leading to thick and sticky mucus that clogs airways and ducts.
This guide covers:
- Pathophysiology
- Signs and symptoms
- Diagnostic tests
- Pharmacology
- Nursing care priorities
- Lifestyle and dietary management
Pathophysiology
In cystic fibrosis, a defective CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein alters the normal movement of salt and water across cell membranes. This causes:
- Thick, sticky mucus in the respiratory tract
- Blockage of pancreatic ducts
- Impaired digestion and nutrient absorption
- Increased risk of chronic respiratory infections
Key Effect:
- Mucus buildup → chronic airway obstruction → bacterial colonization → inflammation and lung damage.
Signs & Symptoms
Respiratory Failure Priority
- Low oxygen saturation (<95%)
- Sudden drop in SpO₂ — immediate airway and oxygen management required
Common Findings in CF
Respiratory:
- Recurrent lung infections
- Blood-tinged sputum due to airway damage
Digestive:
- Weight loss and loss of appetite
- Steatorrhea (loose, fatty stools) from poor fat absorption
- Constipation due to mucus buildup
- Failure to thrive in infants and children
- Delayed growth and puberty
Diagnostics
CF is diagnosed through:
- Sweat chloride test – Measures elevated chloride levels in sweat (>60 mmol/L indicates CF)
- Genetic (DNA) testing – Detects mutations in the CFTR gene
- Stool test – Identifies pancreatic enzyme insufficiency
Note: While these tests are not commonly tested on some nursing board exams, they are crucial in clinical practice.
Pharmacology
Acetylcysteine (Mucomyst)
- Purpose: Mucolytic — helps thin mucus for easier clearance
- Special Use: Antidote for acetaminophen (Tylenol) overdose
- Key Caution: Not safe for all CF patients — may worsen bronchospasm in some cases.
Nursing Care Priorities
Dietary Management
- High-calorie, high-protein diet
- Pancreatic enzyme supplements with every meal to aid digestion
- Adequate salt intake (especially in hot climates)
Mucus Management
- Increase fluid intake to help thin mucus
- Daily exercise to enhance lung function
- Chest physiotherapy and postural drainage to clear mucus
- Use of oscillating positive expiratory pressure (PEP) devices
Family & Financial Support
- CF treatment is long-term and costly — financial counseling is important for access to medications, nutritional supplements, and respiratory therapy devices.
Complications
Without adequate management, CF can lead to:
- Chronic respiratory failure
- Bronchiectasis
- Pancreatic insufficiency
- Liver disease
- Infertility in males due to congenital bilateral absence of the vas deferens (CBAVD)
Patient & Family Education
Infection Prevention:
- Annual flu and pneumococcal vaccinations
- Strict hand hygiene
- Avoid exposure to people with respiratory infections
Home Airway Clearance Routine:
- Perform chest physiotherapy 1–2 times daily
- Use nebulized treatments before physiotherapy for better mucus clearance
- Rapid drop in SpO₂
- Increased shortness of breath
- Coughing up large amounts of blood
Prognosis & Outlook
With advances in treatment, including CFTR modulator therapy, the life expectancy for CF patients has significantly improved, with many living into their 40s and beyond. Early diagnosis, aggressive treatment of lung infections, and optimal nutrition are key to better outcomes.
Summary Table – Cystic Fibrosis Nursing Overview
| Category | Key Points |
|---|---|
| Cause | Genetic mutation in CFTR gene |
| Patho Effect | Thick, sticky mucus in lungs & digestive tract |
| Priority | Maintain airway & oxygenation |
| Symptoms | Recurrent lung infections, steatorrhea, weight loss |
| Diagnosis | Sweat chloride, DNA test, stool test |
| Treatment | Mucolytics, pancreatic enzymes, chest physiotherapy |
| Diet | High calorie/protein, enzymes with meals |
| Caution | Acetylcysteine may worsen bronchospasm |
FAQs on Cystic Fibrosis
Q1. Is cystic fibrosis contagious?
No, it is a genetic disorder passed through autosomal recessive inheritance.
Q2. Why do CF patients need pancreatic enzymes?
Thick mucus blocks pancreatic ducts, preventing enzymes from reaching the intestines to digest fats and proteins.
Q3. How often should chest physiotherapy be done?
Usually 1–2 times daily, but more often during illness or increased mucus production.
Q4. Can CF be cured?
There is no cure, but treatments such as CFTR modulators significantly improve quality of life.
