Cystic fibrosis (CF)

Overview

Cystic fibrosis (CF) is a hereditary disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This genetic defect affects the production and function of the CFTR protein, leading to thick and sticky mucus accumulation in various organs. Let’s delve into the specifics of CF:

Types of Cystic fibrosis (CF)

1. Protein Production Mutations (Class 1):

   • These mutations result in faulty protein production.
   • Nonsense mutations cause premature termination of protein synthesis.
   • Splice mutations disrupt the normal coding process.

2. Protein Processing Mutations (Class 2):

   • Incorrect amino acids alter the shape of the CFTR protein.
   • The misshapen protein fails to move to the correct cellular location.

3. Gating Mutations (Class 3):

   • The CFTR protein acts as a chloride channel gate.
   • Gating mutations limit or block chloride flow through the cell membrane.

4. Conduction Mutations (Class 4):

   • Amino acid changes affect protein function.
   • Protein movement through channels is slowed down.

5. Insufficient Protein Mutations (Class 5):

   • Reduced CFTR protein levels due to various factors.
   • Impaired chloride channel function.

Causes of Cystic fibrosis (CF)

• CF results from inheriting mutated CFTR genes from both parents.
• The defective CFTR gene leads to mucus buildup in ducts throughout the body.

Risk Factors of Cystic fibrosis (CF)

• Risk factors include a family history of CF.

Symptoms of Cystic fibrosis (CF)

Preventions of Cystic fibrosis (CF)

While CF cannot be prevented due to its genetic nature, the following strategies can help manage symptoms:

1. Hygiene and Vaccination:

   • Maintain good hygiene to prevent infections.
   • Receive recommended vaccines to protect against respiratory illnesses.

2. Nutrition:

   • CF patients require high-calorie, high-sodium diets.
   • Salt replacement through snacks and sports drinks compensates for salt loss.

3. Genetic Counseling:

   • Couples planning to conceive should seek genetic counseling to assess their risk of passing on CF.

Diagnosis of Cystic fibrosis (CF)

Diagnosing CF involves a combination of clinical assessments, laboratory tests, and genetic testing. Here are the key steps:

1. Newborn Screening:

   • Most cases of CF are detected through newborn screening programs.
   • A blood test checks for elevated levels of immunoreactive trypsinogen (IRT) and abnormal levels of pancreatic enzymes.

2. Sweat Test (Chloride Test):

   • The gold standard for CF diagnosis.
   • Measures chloride levels in sweat.
   • Elevated chloride levels confirm CF.

3. Genetic Testing:

   • Identifies specific CFTR gene mutations.
   • Helps determine the severity of the disease.

4. Clinical Evaluation:

   • Assess symptoms, family history, and physical examination.
   • Lung function tests (spirometry) evaluate respiratory function.

Treatment for Cystic fibrosis (CF)

1. Airway Clearance Techniques:

   • Chest physiotherapy and postural drainage help clear mucus from the airways.
   • Devices like the Flutter valve or positive expiratory pressure (PEP) masks assist in airway clearance.

2. Medications:

   • Bronchodilators: Open airways and improve breathing.
   • Mucolytics: Thin mucus for easier clearance.
   • Antibiotics: Treat lung infections.
   • Enzyme Replacement Therapy: Aid digestion (pancreatic enzymes).

3. Nutritional Support:

   • High-calorie, high-salt diet.
   • Fat-soluble vitamin supplements (A, D, E, K).

4. Lung Transplantation:

   • Considered for severe lung damage.
   • Improves quality of life and survival.

When to seek medical attention ?

Seek medical attention promptly if you experience:

• Worsening Respiratory Symptoms:

  • Increased coughing, wheezing, or shortness of breath.
  • Changes in sputum color or consistency.

• Digestive Issues:

  • Persistent diarrhea or constipation.
  • Poor weight gain.

• Infections:

  • Frequent lung infections.
  • Fever, chills, or increased fatigue.

• General Health Concerns:

  • Unexplained fatigue or weakness.
  • New symptoms related to CF.