Cystic Fibrosis CF

  • Facts:
    Autosomal recessive
    SIngle CFTR gene deletion, chromosome 7
    MC lethal genetic disease in white children
    98% of patients are infertile
  • History / PE:
    Recurrent pulmonary infections
    Rectal prolapse
    Meconum ileus
    Esophageal varices
    Failure to thrive
  • Diagnosis:
    Abnormal increase in sweat electrolytes
    Immunoreactive trypsinogen assay
    Confirmatory DNA probe test
    Increase in PT
  • Treatment:
    Chest physiotherapy (loosen viscous mucous)
    Treatment for pancreatic insufficiency (fat soluble vitamins, pancreatic enzyme replacements)
    PRN antibiotics and bronchodilators
  • Complications:
    Lung disease, likely from pseudomonas (cover with appropriate ABX)
    Cirrhosis with portal HTN
    Pancreatic fibrosis
  • Notes:
    Fat malabsorption may lead to Vit K clotting factor deficiency (II, VII, IX, X, C+S); cause increase in PT

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July 17th 2010