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  • Cystic fibrosis

    Cystic fibrosis (CF) s a genetic, life-threatening condition that triggers changes in the thickness of secretions from the body. For most people, fluids made by our lungs (mucus), sweat, and digestive juices produced inside the body are thin and/or slippery. CF patients have a change in their genes that cause these secretions to be very thick and sticky and instead of providing lubrication for the body’s functions the fluids they clog the body’s tubes and ducts. CF primarily affects the lungs and pancreas, but does affect other parts of the body as well.

    Most patients with CF are able to perform normal daily activities like attending school or working but need daily care to keep fluids from blocking the airway or triggering other complications. While there is no cure for CF, advancing treatments are helping patients live longer. Just a few years ago, most patients lived to be 20 or 30 – but today many survive to 40 or 50 years old.

    Causes

    CF’s genetic mutation causes the body to move salt in and out of the body’s cells incorrectly. This causes the body’s fluids to be very thick and sticky and sweat to be overly salty. There are a variety of mutations of the gene, and the variation present will determine the severity of symptoms.

    CF is passed down from a child’s parents. One parent may carry the gene for CF without ever knowing it but both partners must have the gene for the disease to develop in their children. All 50 states in the U.S. screen babies for CF at birth.

    Symptoms

    Symptoms of CF will vary depending on the severity of the disease. Some symptoms may change over time. CF may start in infancy or not develop until adolescence or adulthood. Parents of some CF children notice a strong salt flavor on their skin if they kiss them. Other symptoms will affect the respiratory, digestive and even reproductive systems.

    Respiratory

    • Lung infections
    • Wheezing
    • Activity intolerance
    • Thick mucus or spit
    • Irritated or stuffy nose

    Digestive

    • Severe constipation
    • Greasy, bad-smelling stools
    • Poor weight gain, or failure to thrive
    • Intestinal blockages in infants
    • Occasional rectal prolapse from straining to push out stools

    Testing and diagnosis

    A few basic tests can help identify CF. Thankfully, all babies born in a medical facility in the U.S. are required to have a metabolic screening exam (some people used to call it a PKU). This exam looks for abnormally high levels of a chemical called IRT, which is released by the pancreas. This test can show abnormally high levels of the chemical, so additional testing is needed. These include:

    Sweat testing

    A sweat-producing chemical is applied to a small area of skin. Medical staff will then collect a sample of the sweat and test it for a higher-than-normal salt content. This test is usually used for infants and children greater than one month of age.

    Genetic testing

    • Blood samples can be analyzed to look for specific mutations in the genes that cause CF.
    • Adults or children can be screened to find out if they are a carrier for the CF gene.

    Treatment

    Because there is no cure for CF, patients should be prepared for long and complex treatments focused on symptom management and prevention of complications. Many patients will need to be treated in a medical facility that is experienced with cystic fibrosis. Care will focus on loosening secretions, preventing digestive blockages, preventing lung infections and nutritional support.

    Medications

    There are a variety of medications that can be used to address the symptoms of CF. These include antibiotics to prevent lung infections, bronchodilators to open tight airways, mucus-thinning drugs, and pancreatic enzymes to help the body absorb food and nutrients properly.

    Physical therapy and pulmonary rehabilitation

    There are a variety of devices available to help loosen thick secretions so they can be removed from the body. Some patients need to use these tools several times a day and may include a vest that vibrates, or tubes the patient breathes deeply through to move mucus.

    Pulmonary rehabilitation may also provide the patient and family with approaches to improve lung function and general well-being. Breathing techniques, counseling, support and exercise training are all part of pulmonary rehabilitation.

    Surgery

    Surgical approaches will vary depending on the problem being addressed. Surgical removal of nasal polyps may open clogged airways, and oxygen therapy supports poor gas exchange in the lungs. Feeding tube placement may be needed to deliver nutrients to the body and other abdominal surgeries could be needed if the intestines or digestive system is blocked.

    After other treatments have failed, some patients may qualify for a lung transplant. Lung transplants for CF patients are controversial due to the high rate of complications and poor data to support its ability to prolong life.



Page last updated: 1/6/2014 3:41:43 PM