Cystic Fibrosis

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: Cystic FibrosisCopyright © Nucleus Medical Media, Inc. CF is a serious life-long condition, but the severity of the 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. A child with CF inherits defective genes from each parent. Parents who have the gene but do not have CF are called carriers.

  • 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
    factsheet image
    Copyright © Nucleus Medical Media, Inc.

    CF is a serious life-long condition, but the severity of the 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.

  • 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
    • Transepithelial nasal potential difference measurement

    Your doctor may need to check your lungs. This may be done to look for symptoms or to determine treatment. Tests may include:

    • Chest
      and/or sinus x-rays
    • Lung function tests
    • Sputum cultures

    Tests may also be needed to check the pancreas. These tests may be done to assess symptoms or determine treatment.

  • 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.

  • 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 the 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
    • Intestinal obstruction, sometimes requiring surgery
    • Salty sweat

    Mucus that causes blockages in the lungs may lead to:

    • Coughing and wheezing
    • Shortness of breath
    • Difficulty with exercise
    • Abnormally shaped clubbed finger tips
    • Malformed chest

    Mucus can also block the pancreas. This can block enzymes used to help you digest food. This can lead to:

    • Trouble gaining weight
    • Poor growth
    • Failure to thrive
    • Malnutrition
    • Dehydration
    • Bulky, bad-smelling, floating stools, due to poor digestion of fats
    • Diarrhea

    Other symptoms may include:

    • Mildly decreased fertility in females
    • Prolapsed rectum
    • Prevention of sperm production in males
    • Nasal polyps
    • Chronic nasal congestion from chronic sinus infections
    • Jaundice or other symptoms of liver disease
    • Excessive thirst or urination that may indicate diabetes mellitus type 2
    • Stomach pain or swelling from intestinal blockage

    Overall, girls are affected more severely than boys.

  • Treatment

    There is no cure for CF. Treatment is aimed at:

    • Improving the amount of nutrition your body receives
    • Preventing and treating lung and sinus infections
    • Keeping the airways and lungs as clear as possible

    Treatment for CF includes:


    If you or your child is diagnosed with CF, follow your doctor's
    instructions
    . Keep all follow-up appointments as advised by your doctor.