Cystic fibrosis

Background
  • Autosomal recessive genetic disorder
    • Mutation in cystic fibrosis transmembrane conductance regulator protein (CFTR) leads to defect of sodium/chloride exchange channel
    • Defect in chloride transport leads to thick, viscous secretions in lungs, pancreas, liver, intestines, reproductive tract
  • Diagnosed by sweat chloride test
  • Predicted life expectancy less than 40 years

Clinical Features
  • Respiratory
    • Acute exacerbations lead to increase in baseline cough and sputum production
    • Pneumonia
      • Chronic colonisation with multiple organisms
      • Staph aureus and H. influenzae common in childhood
      • Most become chronically colonised with pseudomonas aeruginosa and/or virulent gram-negative bacteria
      • Pseudomonas features include: severe pneumonia, cyanosis, confusion, often bilateral, occasionally empyema
      • Higher risk for aspergillosis
    • Increased risk of pneumothorax (8%–20% will develop one in lifetime[1])
    • Bronchitis
    • Sinusitis and nasal polyps
    • Chronic inflammation and infection lead to bronchiectasis and angiogenesis (may have hemoptysis)
    • Long-standing disease can lead to cor pulmonale
  • Gastrointestinal
    • Meconium ileus: failure to pass meconium within first 48 hours of life
      • Earliest clinical manifestation of disease
      • Occurs in 10 - 20% of those diagnosed
      • 90% of babies with meconium ileus have cystic fibrosis
      • Obstruction due to thick meconium
      • Can lead to perforation if unrecognized
      • Diagnosed and treated with hyperosmolar contrast enema
    • Pancreatic insufficiency
    • Pancreatitis
    • Diarrhea and malnutrition due to resultant malabsorption
  • Other
    • Electrolyte disturbances
    • Suppurative parotitis
      • Rapid onset parotitis (warm, swollen, tender gland, fever, trismus)
      • Purulent drainage from Stensen's duct
      • Organisms: staph, strep pneumo, strep pyogenes, H. flu, e. coli, pseudomonas

Differential Diagnosis


Evaluation
  • Sweat chloride test to make diagnosis, may also be diagnosed by amniocentesis if high suspicion antenatally (outside ED scope)
  • CBC (signs of infection)
  • Electrolytes
  • LFTs and lipase (if concern for pancreatitis)
  • Consider blood and sputum cultures (may have resistant organisms)
  • CXR
    • Advanced disease: peribronchial thickening, mucous plugs, cystic/bullous lesions, atelectasis, hilar adenopathy, air trapping
    • Infiltrates if pneumonia
    • Pneumothorax

Short-Term Management

Long-Term Management
  • Chest physiotherapy
  • Exercise therapy
  • Pancreatic enzymes
  • Fat-soluble vitamin supplementation
  • Nebulised DNase
  • Lung transplant

Disposition
  • Dispo decision should be made in conjunction with patient's pulmonologist if possible, as they often know their patients very well

See Also

References
  1. Tintanelli's
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