What is What is Cystic Fibrosis?

What is Cystic Fibrosis?

  • Cystic Fibrosis (CF) is a genetic condition that a child has from birth
  • CF affects the cells that produce mucus, sweat, and digestive juices. CF makes these fluids thick and sticky instead of thin and slippery. These fluids plug up the lungs and digestive tract and cause life-threatening damage over time.
  • CF requires daily care

How Is Cystic Fibrosis Diagnosed?

  • CF can be diagnosed on routine newborn screens - These blood tests check for multiple diseases in newborn babies
  • CF can also be diagnosed by a "sweat test" - This test checks the level of salts in a child's sweat
  • Early diagnosis is important in order to:
    • Slow the progression of lung disease
    • Prevent malnutrition
    • Provide genetic counseling for families prior to further pregnancies

What Are the Signs and Symptoms of Cystic Fibrosis?

  • Lung/Breathing symptoms are due to the thick, sticky mucus clogging the lungs:
    • Wheezing
    • Difficulty breathing
    • Repeated lung infections
    • Lung failure: Eventually CF damages the lungs so much that they don't work. Some people require lung transplants.
    • Inflamed nasal passages
  • Digestive tract symptoms are due to the thick, sticky mucus clogging the digestive enzymes from the pancreas. Since these digestive enzymes can't get into the rest of the gut, the following problems can occur:
    • Very smelly, greasy bowel movements. These often float in the toilet.
    • Poor weight gain. CF can cause failure to thrive (FTT). Kids with CF have to take special medicines (enzymes) to help digest their food so that they can gain weight
    • Bowel blockage
    • Severe constipation
    • Diabetes - People with CF are at high risk of developing diabetes

Monitoring Cystic Fibrosis:

  • In addition to routine Well-Child Checks, children with CF are followed by a lung doctor (pulmonologist) who specializes in CF care
  • Since kids with CF are at risk for failure to thrive (FTT), doctors check their weight often
  • Pulmonary function tests (PFTs) check how well a person's lungs work
  • Sputum cultures are used to check for infection in the mucus
  • Imaging tests: Sometimes X-rays and CTs are used to check for damage to lungs and intestines
  • Bloodwork to check the health of a child's pancreas. This can help determine if a child has diabetes.

Cystic Fibrosis Care:

  • Taking care of a child with CF is a lot of work. There are no vacations.
  • Medicines and treatments need to be given multiple times per day, every single day, to keep children as healthy as possible for as long as possible
  • There is no cure for CF, but treatment can help reduce symptoms and complications
  • Children often need multiple medications per day. Medications are taken before eating to help digest food. Medications are inhaled to help break up mucus and to open airways.
  • Children need chest physical therapy multiple times per day to help break up mucus

Jennifer E. Wolford, DO, MPH, FAAP
Children's Hospital of Pittsburgh,
Division of Child Advocacy

Rachel P. Berger, MD, MPH
Children's Hospital of Pittsburgh,
Division of Child Advocacy

Adelaide L. Eichman, MD
Children's Hospital of Pittsburgh,
Division of Child Advocacy

Content Sources:
Mayo Clinic Staff. 2012. "Cystic Fibrosis.": www.mayoclinic.org

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