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April 15, 2014

Cystic fibrosis: A genetic disease

Cystic fibrosis (CF) is the most common, fatal genetic disease affecting young Canadians. An estimated one in every 3,600 children born in Canada today has CF.

What is cystic fibrosis?

CF, also known as “mucoviscidosis,” causes a build-up of mucus, which blocks the lungs, prevents food from being digested and damages the reproductive system. It is not contagious but is rather a hereditary condition passed on through genes. When two parents are carriers – that is, when each of them has 1 healthy gene and 1 defective gene – their children will have a 25 percent chance of developing CF, a 50 percent chance of being a carrier (without having the disease) and a 25 percent chance of not having CF or of being a carrier.

Signs and symptoms of cystic fibrosis

  • Difficulty breathing;
  • Wheezing;
  • Constant cough which expels thick mucus;
  • Repeated, prolonged bouts of pneumonia;
  • Nasal polyps;
  • Sweat with a high salt concentration (salty-tasting skin);
  • Excessive appetite accompanied by weight loss (fat malabsorption);
  • Digestive problems; bulky, fowl-smelling stool;
  • Failure to thrive (and late onset of puberty).

Since the end of the 1930s, knowledge on CF has constantly advanced. However, even today, doctors may inaccurately diagnose CF, since it can be confused with other illnesses such as asthma, chronic bronchitis, pneumonia and celiac disease. It should be noted that 90 percent of children with CF are diagnosed by the age of 10.

Treating cystic fibrosis

There is no cure for CF. Treatment options to reduce symptoms and improve the quality of life of those affected include:

  • Physical therapies (chest physiotherapy, physiotherapy, “clapping” the chest and back, etc.) to drain mucus from the lungs;
  • Digestive enzymes supplements;
  • Eating a high-calorie, high-protein diet with vitamin supplements;
  • Various medications (antibiotics, anti-inflammatory agents, mucolytics, bronchodilators, etc);
  • Lung or heart transplant.

At present, the most promising treatment avenue for CF is, of course, genetic therapy. We can only hope that one day soon we will be able to alter and neutralize the defective gene that causes this terrible disease.

Pharmacy services

There are many professional pharmacy services available to help you manage the symptoms of cystic fibrosis:

Do you have questions about cystic fibrosis? Talk to your pharmacist. He’s there to help!

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