Definition:

Cystic fibrosis (CF) is an inherited, chronic disease that affects the mucus glands of the body (lungs, digestive system, sweat glands).  The tissue in these areas of the body becomes fibrous which, in turn, decreases the elasticity of tissue.  The disease affects the ability for the body to move salt and water (components of sweat) in and out of cells, which can lead to various organ system complications.  It's a genetic disease, so that a mutation in the CF gene can lead to an abnormal CFTR transporter.  The CFTR transporter is a major mucus gland transporter, and its inactivation leads to the formation of thick, sticky mucus.

Symptoms:

• Gastrointestinal complications
  • No bowel movements during the first 1-2 days of life (meconium)
  • Stools are pale, float, and are foul in smell
  • Diarrhea
  • Inability to absorb fat, leading to malnutrition and malabsorption
  • Blockage of the pancreatic duct (pancreatic insufficiency)
  • Some cases of diabetes
• Respiratory complications
  • Nose sinus swelling (pansinusitis)
  • Increase in intensity and frequency of respiratory infections
  • Swelling and inflammation of respiratory tract, which can lead to emphysema
  • Coughing
  • Wheezing
  • Lung disease
• Male infertility

Diagnosis:

• Sweat test - induction of sweat from the forearm and analysis of sodium and chloride concentrations (increase is indicative of CF)
• Genetic test - to see for mutations in the CF gene
• Newborn screening using the IRT test (immunoreactive trypsinogen test) - to check for trypsinogen in the blood; must confirm CF diagnosis via sweat test

Treatment:

• No cure
• Surgery - to relieve obstruction of intestines
• Restoration of pancreas activity via oral pancreatic enzymes
• Proper nutrition - high calorie diets and vitamin supplements
• Respiratory monitoring to reduce and maintain respiratory health (antibiotics)
• New treatments - DNAse enzyme replacement