Cystic Fibrosis

What is Cystic Fibrosis?

  • Cystic Fibrosis is a genetic (inherited) disorder that affects the lungs, digestive system, and other organs by causing thick, sticky mucus buildup.
  • Caused by mutation in the CFTR gene.
  • Passed from parents to children (autosomal recessive inheritance).
  • Affects cells that produce mucus, sweat, and digestive juices.
  • Thick mucus blocks airways and digestive ducts.

Symptoms of Cystic Fibrosis

  • Respiratory Symptoms
    • Persistent cough with thick mucus
    • Wheezing and shortness of breath
    • Frequent lung infections
    • Recurrent sinus infections
    • Recurrent sinus infections
  • Digestive Symptoms
    • Poor weight gain and growth
    • Greasy, foul-smelling stools
    • Severe constipation or intestinal blockage

Diagnosis of Cystic Fibrosis

  • Newborn screening tests
  • Sweat chloride test (high salt levels)
  • Genetic testing
  • Clinical evaluation and family history

Treatment of Cystic Fibrosis

  • Airway clearance therapy
  • Antibiotics for infections
  • Mucus-thinning medications
  • Anti-inflammatory drugs
  • CFTR modulator therapy (targets gene defect)
  • Pancreatic enzyme supplements & nutritional support

Complications of Cystic Fibrosis

  • Chronic lung infections
  • Bronchiectasis (airway damage)
  • Collapsed lung (pneumothorax)
  • Respiratory failure
  • Diabetes related to CFLiver disease
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