What is Cystic Fibrosis (CF)?

Overview:

• An inherited, autosomal recessive genetic disorder.
• Caused by mutations in the CFTR gene on chromosome 7, affecting chloride ion transport.
• Carrier status: inheriting one mutated gene makes you a carrier; inheriting two causes cystic fibrosis.

Pathophysiology:

• Chloride channel dysfunction leads to thick, sticky mucus in various organs.
• Mucus becomes tenacious and obstructs exocrine gland ducts, notably in lungs, pancreas, liver, salivary glands, vas deferens, and cervix.
• In lungs, mucus plugs block airflow, causing recurrent infections and fibrosis.
• Mucus buildup in pancreas ducts prevents digestive enzymes from reaching the intestine, leading to:
  • Malabsorption of nutrients.
  • Steatorrhea (fatty stools).
  • Pancreatic tissue destruction, causing Type 1 diabetes.
• Bile duct blockage causes liver damage.
• High salt content in sweat is a hallmark; tested via sweat chloride test.

Early Signs and Diagnosis:

• Meconium ileus: First sign; intestinal obstruction in newborns due to mucus plugging.
• Salty skin: Detected by sweat test using electrodes.
• Malabsorption: Failure to thrive, delay in milestones.
• Respiratory issues: Chronic cough, recurrent respiratory infections.
• Other: Sterility in males (vasa deferentia obstructed), possible in females due to cervical duct obstruction.

Progression and Complications:

• Recurrent infections and mucus plugging cause progressive lung damage, fibrosis, and vasoconstriction.
• Pulmonary hypertension increases strain on the heart, leading to cor pulmonale (right-sided heart failure).
• Lifespan: Average around 37 years, historically shorter, now improved with advanced care.

Management and Treatments:

• Chest physiotherapy: Percussion and postural drainage to loosen mucus.
• Medications:
  • Supplements for nutrition due to malabsorption.
  • Antibiotics for infections.
  • Use of synthetic surfactant in neonatal IRDS.
• Surgical options: Lung transplant in advanced cases.
• Lifestyle:
  • Balanced diet.
  • Regular exercise (use it or lose it).
  • Lifelong management to improve quality and extend lifespan.

Additional Considerations:

• Caution against dating or close contact with other CF patients to prevent cross-infection and accelerated lung damage.
• Monitoring lung function via chest X-rays and pulmonary function tests.

Summary:

Cystic fibrosis is a complex multisystem genetic disorder causing thick mucus production that impairs organ function, especially in the lungs and pancreas. Early diagnosis, regular management, and lifestyle adjustments can improve quality of life and extend survival, though it remains a serious, life-limiting condition.