• Cystic Fibrosis

    (CF)

    Definition

    Cystic fibrosis (CF) is an inherited disease. It causes a defect in certain cells of the lung and digestive system. The defect makes the cells produce a thick, sticky mucus. This mucus can cause:
    • Blockages in the lungs and airways
    • Problems digesting and absorbing nutrients
    Cystic Fibrosis
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    CF is a serious life-long condition but the severity of illness can vary greatly. The average life expectancy for someone with CF is about 35 years. Although, some with mild forms of CF can live to age 60 or beyond.

    Causes

    CF is a genetic disorder. The child will need to inherit the defective genes from each parent in order to develop CF. Parents that have the gene but do not have CF are called carriers.

    Risk Factors

    Factors that increase your chance of CF include:
    • Parents who are known carriers of the CF gene
    • Siblings with CF
    • Parents with CF (mostly mother since men with CF are often sterile)

    Symptoms

    The abnormally thick mucus of CF blocks certain organs. This causes many of the symptoms of CF.
    Symptoms in infants may include:
    • Difficulty passing the first stool (meconium)
    • Meconium ileus (intestinal obstruction), sometimes requires surgery
    • Salty sweat
    Mucus that causes blockages in the lungs may lead to:
    • Coughing and wheezing
    • Shortness of breath
    • Difficulty with exercise
    • Repeated pneumonia
    • Severe, chronic sinusitis
    • Abnormally shaped clubbed finger tips
    • Barrel chest
    • Nasal polyps
    Mucus can also block the pancreas. This can block enzymes used to help you digest food. This can lead to:
    Other symptoms may include:
    • Salty sweat
    • Mildly decreased fertility in females
    • Prolapsed rectum
    • Prevention of sperm production in males
    Overall, girls tend to be affected more severely than boys.

    Diagnosis

    The doctor will ask about symptoms and medical history. A physical exam will be done. CF is suspected in a child with classic symptoms, especially if a sibling has CF.
    CF is often diagnosed by symptoms, family history of CF or a positive screening test in newborns. The diagnosis may be confirmed with genetic testing. Other lab tests that may be used to confirm CF include:
    • Sweat chloride testing (still the standard for making a diagnosis of CF)
    • Transepithelial difference measurement
    Your doctor may need to check your lungs. This may be done to look for symptoms or determine treatment. Tests may include:
    Tests may also be needed to check the pancreas. These tests may be done to assess symptoms or determine treatment.

    Treatment

    There is no cure for CF. Treatment is aimed at:
    • Improving the amount of nutrition your body receives
    • Preventing and treating lung infections
    • Keeping the airways and lungs as clear as possible
    Treatment for CF includes:

    Nutritional Support

    Better nutrition will help improve overall health. It will also improve growth and development in children. Children that have returned to normal weight within two years of the diagnosis, tended to have fewer coughing episodes and better lung function. Some nutritional steps that may help include:
    • High-calorie diet planned by a registered dietitian
    • Nutritional supplements, including fat-soluble vitamins
    • Pancreatic enzyme tablets with meals to improve digestion and absorption of nutrients
    • Drinking lots of fluids, especially in hot weather or when ill

    Managing Lung Infections

    Thick mucus in the airways increases the risk of respiratory infections. The infection can also be more severe because of the mucus. Treatment of a current infection often requires antibiotics. Prevention of new infections may be done with:
    • Vaccination
    • Inhaled and/or systemic antibiotics
    • Antibiotics to treat recurrent lung infections

    Lung and Airway Support

    Medications help keep the airways clear. Most will be delivered through an inhaler or nebulizer. Medications may include:
    • Bronchodilators—to relax muscles and open the airway
    • Steroid inhalers—to decrease swelling and irritation
    • Mucolytic agents—to reduce mucus and help it move out of the lung
    Other steps that may help clear mucus from the lungs include:
    • Hypertonic saline is a special type of salt water. A nebulizer machine creates a mist of this saline, which is inhaled by the user. The mist may help thin out the mucus in the lungs.
    • Chest percussion and postural drainage or high-frequency chest wall oscillation are rhythmic clapping over the chest. They may help clear mucus from airways.
    Oxygen therapy may be required as the disease progresses.

    Other Treatment

    Surgery may be required to treat blockages in the intestine. Lung and liver transplants may also be considered.
    Researchers are exploring gene therapy. This may slow the progression of CF or even cure it.
    Support is important for those with CF and their families. Ask you doctor about local support groups or counseling options.
    If you or your child is diagnosed with CF, follow your doctor's instructions .
    If you or your child is diagnosed with CF, follow your doctor's instructions .

    Prevention

    If you have the defective genes, there is no way to prevent CF.
    Adults can be tested to see if they carry the genes before having children. Prenatal testing can determine if a baby will have CF. The availability of this testing raises many important ethical questions.

    RESOURCES

    American Lung Association http://www.lungusa.org/

    Cystic Fibrosis Foundation http://www.cff.org/

    CANADIAN RESOURCES

    About Kids Health http://www.aboutkidshealth.ca/

    Sick Kids http://www.sickkids.ca/

    References

    About cystic fibrosis: what you need to know. Cystic Fibrosis Foundation website. Available at: http://www.cff.org/AboutCF/ . Accessed December 11, 2012.

    Cystic fibrosis. American Academy of Pediatrics Healthy Children website. Available at: http://www.healthychildren.org/English/health-issues/conditions/chronic/Pages/Cystic-Fibrosis.aspx . Updated January 9, 2012. Accessed December 11, 2012.

    Cystic Fibrosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated November 7, 2012. Accessed December 11, 2012.

    Cystic fibrosis testing. American Medical Association website. Available at: http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/related-policy-topics/genetic-testing/cystic-fibrosis-testing.shtml . Accessed December 11, 2012.

    Conn HF, Rakel RE. Conn’s Current Therapy. 54th ed. Philadelphia, PA: WB Saunders Company; 2002: 720-721.

    Federico, MJ, Kerby, GS, Deterding, RR, et al. Respiratory Tract & Mediastinum. In Hay W.W., et al, Eds. Current Diagnosis & Treatment: Pediatrics . 20th ed. New York, NY: McGraw-Hill Companies, Inc; 2011.

    Kleigman RM, Jensen HB, Behrman RE, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007.

    4/16/2009 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed/what.php : Lai HJ, Shoff SM, Farrell PM; Wisconsin Cystic Fibrosis Neonatal Screening Group. Recovery of birth weight z score within 2 years of diagnosis is positively associated with pulmonary status at 6 years of age in children with cystic fibrosis. Pediatrics. 2009;123:714-722.

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