Cystic Fibrosis in Children

Cystic fibrosis is a lifelong disease that affects the lungs and digestive system.  About 30,000 children and adults in the United States have CF (70,000 worldwide).  This disease is caused by a defective gene that makes the body produce very thick, sticky mucus. This mucus:

  • Clogs the lungs and leads to lung infections
  • Blocks the pancreas and prevents the normal breakdown and use of food by the body

People with CF can have a variety of symptoms, including:

  • Salty-tasting skin
  • Daily cough, at times with mucus
  • Lung infections
  • Shortness of breath
  • Poor growth / weight gain even with  a good appetite
  • Frequent greasy, bulky stools or trouble having a bowel movement
  • Cystic fibrosis is a genetic disease. This means that people inherit it from their parents through genes (or DNA). 
  • To have cystic fibrosis, a person must inherit two copies of the defective CF gene, getting one copy from each parent. Carriers are not affected.

Recessive inheritance of CF.

© 2011 CF Foundation
Printed with permission from the Cystic Fibrosis Foundation

Most people are diagnosed with CF at birth with newborn screening, or before 2 years of age. A doctor who sees the symptoms of CF will order a sweat test or a genetic test to confirm the diagnosis.

A sweat test is the most common test used to diagnose CF. It is a painless test.  A small electrode (disk) is placed on the skin (usually on the arm) to get the sweat glands to make sweat. The sweat is collected and the amount of chloride (a part of salt) is measured. A high level of chloride means that the person has cystic fibrosis. 



Age

Normal
Chloride
Level
Borderline
Chloride
Level
High
Chloride
Level
Children less than
6 months old 
Less than 30 mmol/L Between 30-59 mmol/L 60 mmol/L or higher 
Children over
6 months old 
Less than 40 mmol/L
Between 40-59 mmol/L 60 mmol/L or higher 

Notes:

  • Mmol/L is a measure of concentration.
  • Borderline chloride levels are reviewed on a case-by-case basis. 

The best place to get a sweat test done is at a Cystic Fibrosis Foundation-accredited care center.

Because the severity of CF differs from person to person, and CF lung infections flare up from time to time, there is no “typical” day. However, each day most people with CF:

  • Take pancreatic enzyme supplement capsules with every meal and most snacks to help digest fat and protein. Even babies who are breastfeeding may need to take enzymes.
  • Take multivitamins, especially the fat soluble vitamins A, D, E and K
  • Clear the lungs at least twice and sometimes up to four or more times a day. This  helps  move the thick mucus out of the lungs and lessens the chance of lung infection.
  • Take liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer (called aerosolized medicines). There are different types of aerosolized medicines with different actions including thinning the mucus, opening the airways and fighting infection.
  • Each child’s doctor will decide which, if any, of these medicines and treatments are needed.

Last Updated 09/2013