Cystic Fibrosis (CF): Causes, Symptoms, Diagnosis & Treatment

Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. Let’s delve into the key aspects of CF, from its causes to available treatments.

Introduction

Cystic fibrosis is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene encodes a protein responsible for maintaining the balance of salt and water in various organs. When the CFTR protein is defective, thick and sticky mucus accumulates in the lungs, pancreas, and other organs.

Symptoms

Common symptoms of CF include:

• Persistent Cough: Due to thick mucus obstructing airways.
• Recurrent Lung Infections: Bacterial infections are frequent.
• Digestive Issues: Malabsorption of nutrients, leading to poor weight gain.
• Salty Skin: Excessive salt in sweat.
• Pancreatic Insufficiency: Difficulty digesting fats and proteins.

Diagnosis

1. Newborn Screening:
2. Most cases are detected through newborn screening.
3. Elevated levels of immunoreactive trypsinogen (IRT) prompt further testing.
4. Sweat Test:
5. Measures chloride levels in sweat.
6. High chloride indicates CF.
7. Genetic Testing:
8. Identifies specific CFTR mutations.
9. Confirms the diagnosis.

Treatment

1. Airway Clearance Techniques:
2. Chest physiotherapy and devices to clear mucus.
3. Exercise and deep breathing.
4. Medications:
5. Bronchodilators to open airways.
6. Enzyme supplements for digestion.
7. Antibiotics for infections.
8. Lung Transplant:
9. For severe lung damage.
10. Nutritional Support:
11. High-calorie diet.
12. Fat-soluble vitamin supplements.

Remember, early diagnosis and comprehensive management improve the quality of life for individuals with CF. Consult a healthcare professional for personalized guidance.