Cystic Fibrosis

CF is caused by a defective gene which alters a protein that is responsible for the movement of chloride throught the cell membranes. The protein is called CFTR - cystic fibrosis transmembrane regulator. Several hundred mutations have been found in this gene, all of which result in defective transport of sodium and chloride by epithelial cells. This results in thick, sticky secretions in the respiratory and digestive tracts, as well as in the reproductive system. It causes increased salt concentration in sweat on the skin as well.

The specific signs and symptoms of CF can vary, depending on the severity of the disease. For example, one child with CF may have respiratory problems but not digestive problems, whereas another child may have both. In addition, the signs and symptoms of CF may vary with age.

The signs and symptoms of CF in children and young adults may include:

  • Salty taste of the skin. People with CF tend to have two to five times the normal amount of salt (sodium chloride) in their sweat. This may be one of the first signs parents notice because they taste the salt when they kiss their child.

  • Blockage in the bowel.
  • Foul smelling, greasy stools.
  • Delayed growth.
  • Thick sputum. Infants and young children tend to swallow their sputum, and parents may not be aware of it.
  • Chronic coughing or wheezing.
  • Frequent chest and sinus infections with recurring pneumonia or bronchitis.

    • At present time no cure for CF exists, although several drug-based approaches are being investigated. In the meantime doctors just can ease the symptoms or slow the progres of the disease. This is achieved by antibiotic therapy combined with treatments to clear the thick mucus from the lung.

    Now are you asking what this has to do with JR Bourne, right? Well, JR's little niece Madison got diagnosed with CF. He started to work to together with CCFF (Canadian Cystic Fibrosis Foundation) to raise money for research on this disease.

    For more information about CF and CCFF you can visit his Official Website or one of the following links:

    CCFF Canadian Cystic Fibrosis Foundation Homepage
    Cystic Fibrosis pretty good site with videoclips.
    Cystic Fibrosis good site with lots of information