Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis is a common genetic fibrosis is a common genetic disease and is one of the most serious.  It mainly affects the respiratory system and the digestive system.  There is no cure fro cystic fibrosis and it causes breathing and digestion problems.

People who inherit cystic fibrosis receive a defective gene on chromosome 7 called CFTR (cystic fibrosis trans membrane conductance regulator).  The gene must be present in both parents to be inherited. The protein produced by this gene helps salt move in and out of cells. If the protein doesn’t work correctly, that movement is blocked and an abnormally thick sticky mucus is produced on the outside of the cell. The area most affected is generally the lungs. The mucus clogs the airways in the lungs, and increases the risk of infection by bacteria.  This same mucus also blocks the ducts in the pancreas which blocks the digestive enzymes from receiving proper nutrition because their body is not digesting food.

Cystic Fibrosis

Cystic fibrosis affects the sweat glands. Salt can be lost through sweat glands and can disrupt the electrolyte balance in the body.

What are the symptoms of cystic fibrosis?
Symptoms may include coughing or wheezing, respiratory illnesses, low weight, salty-tasting skin, and greasy stools. As the lungs are repeatedly clogged, they are susceptible to infection and don’t last as long as they should. Patients who don’t receive treatment may have shortened lifespans.

Although there is no cure for cystic fibrosis, treatments are available to assist in clearing mucus from the lungs and preventing infection. Current Treatments include:

  • Chest physical therapy, where the patient is repeatedly clapped on the back to free up mucus in the lungs.
  • Inhaled antibiotics to kill the bacteria that cause lung infections.
  • Bronchodilators that help keep the airways open.
  • Pancreatic enzyme replacement therapy to allow proper food digestion.
  • Gene therapy in which the healthy gene is inserted into the lung cells of a patient to correct the defective gene.