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
  Steatorrhea
  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)
  Immunizations
  Treatment for pancreatic insufficiency (fat soluble vitamins, pancreatic enzyme replacements)
  PRN antibiotics and bronchodilators
• Complications:
  Lung disease, likely from pseudomonas (cover with appropriate ABX)
  Gallstones
  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