Cystic fibrosis (CF)

Overview

Cystic fibrosis (CF) is a life-threatening disease that causes the body to produce thick sticky mucus which damages the lungs and causes nutritional deficiencies. It is estimated that one in every 2500 children born in Canada has cystic fibrosis. Approximately 60 per cent are diagnosed in the first year of life and 90% by the time they are 10 years old. There is no cure for CF. However thanks to advances in research and clinical care increasing numbers of children with the disease are surviving into adulthood.

Symptoms

  • difficulty breathing
  • constant cough which expels thick mucus
  • excessive appetite with weight loss
  • foul-smelly greasy stools
  • skin which tastes salty
  • repeated or prolonged chest and sinus infections with recurring pneumonia or bronchitis
  • delayed growth

While medical awareness of cystic fibrosis has increased tremendously over the years its symptoms can still be confused with those of other common diseases -- such as asthma chronic bronchitis or pneumonia and celiac disease.

Causes

CF is an inherited condition that affects the cells that produce mucus sweat saliva and digestive juices. Normally these secretions are slippery but in CF a defective gene alters a protein that regulates the normal movement of salt (sodium chloride) in and out of cells. This causes the secretions to become thick and sticky.

In the lungs the mucus makes it difficult to clear bacteria and leads to cycles of infection and inflammation which causes severe breathing problems and a real risk of respiratory failure.

In the digestive tract CF makes it extremely difficult to digest and absorb adequate nutrients from food. Thick mucus also blocks the ducts of the pancreas preventing enzymes from reaching the intestines to digest food.

The affected gene that is responsible for CF is inherited from a child's parents. It is known as a recessive gene because children need to inherit two copies of it one from each parent in order to have the disease. Approximately one in every 25 Canadians carries one copy of this gene. Carriers do not have cystic fibrosis and can never get the disease. In most cases they are not even aware that they are carriers because they do not have cystic fibrosis or any of its symptoms.

When two carriers have a child together there is:

  • a 25% chance that the child will be born with cystic fibrosis
  • a 50% chance that the child will not have CF but will be a carrier
  • a 25% chance that the child will not have CF and will not be a carrier

With each pregnancy the risks are exactly the same. Two carrier parents may have several children with CF or none at all.

Treatment

If a doctor suspects CF he or she will probably suggest a "sweat test". This simple and painless test measures the amount of salt in the sweat. A high salt level along with other symptoms points to the presence of cystic fibrosis. Genetic tests are also available.

When CF is confirmed treatment programs are tailored to individual needs and depend upon the stage of the disease and which organs are affected. The main goal is to prevent infections reduce the amount and thickness of secretions in the lungs improve airflow and maintain adequate calories and nutrition.

Treatments for CF may include antibiotics drugs that make mucus thinner and easier to cough up and medications that help open the bronchial tubes. In addition:

  • tapping or "clapping" the chest and the back vigorously(percussion) or PEP (positive expiratory pressure) Mask Therapy is used to help loosen the mucus which clogs the lungs
  • pancreatic enzymes with meals aid digestion
  • nutritional supplements and vitamins promote good nutrition
  • drinking plenty of liquids help loosen mucus.
  • eliminating secondhand smoke which is harmful for everyone but especially for people with CF.

If someone with CF has severe breathing problems or life-threatening pulmonary complications they may be a candidate for lung transplantation.

Additional Resources

Canadian Cystic Fibrosis Foundation