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  • Autosomal recessive disorder of the cystic fibrosis transmembrane conductance regulator (CFTR) – chromosome 7 (Delta F508). 1:2500.
    • Induces low salt and chloride excretion into airways leading to increased viscosity of secretions
  • Presentation
    • Lung: recurrent chest infections, bronchiectasis
    • ENT: nasal polyps and sinusitis
    • GI: Meconium ileus, malabsorption, intestinal obstruction, steattorrhoea (pancreatic insufficiency)
    • Other: Fertility, arthropathy
  • Investigations
    • Sweat electrolyte test
      • Chloride >60 is diagnostic
    • CXR
      • Peribronchial thickening (but can be normal)
    • CT (HR)
    • DNA analysis for genotype
  • Management
    • Antibiotics
    • Pancreatic/nutritional supplements
    • Inhaled antibiotics, steroids and recombinant human DNase
    • CFTR gene therapy
    • Lung transplant
  • Complications
    • DM (10%) – treat with insulin
    • ABPA (15%)
      • High dose steroids
    • Infections
    • Osteoporosis
    • Liver disease