What is cystic fibrosis?

Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body’s organs, especially the lungs and the pancreas . People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, and growth. The disease generally gets worse over time.

The life expectancy for people with cystic fibrosis has been steadily increasing.

What causes cystic fibrosis?

Cystic fibrosis is one of the most common genetic disorders in children. It’s caused by a change, or mutation, in a gene. The changed gene is passed down in families. To pass on this disease, both parents must be carriers of the changed gene.

What are the symptoms?

Cystic fibrosis is usually diagnosed at an early age. The symptoms aren’t the same for everyone. But some common symptoms in a baby who has cystic fibrosis include:

• A blocked small intestine at birth. This prevents the baby from passing his or her first stool.
• Very salty sweat or skin.
• Diarrhea.
• Not growing or gaining weight the way that other children do.
• Breathing problems, lung infections, a cough that does not go away, and wheezing.

Other symptoms may also develop in childhood, such as:

• Clubbing (rounding and flattening) of the fingers.
• Rectal prolapse (when part of the rectum protrudes from the anus).
• Growths (polyps) in the nose or sinuses.

How is cystic fibrosis diagnosed?

Babies in the United States and Canada are tested for cystic fibrosis right after birth. Screening tests look for a certain health problem before any symptoms appear. The doctor may also notice the signs of cystic fibrosis during a routine exam.

If your child has a positive newborn screening test or symptoms of cystic fibrosis, your doctor will order a sweat test to see how much salt is in your child’s sweat. People with cystic fibrosis have sweat that is much saltier than normal. The doctor may also suggest a genetic test. Finding a high amount of salt in two sweat tests or finding certain changed genes will confirm a diagnosis.

How is it treated?

The types of treatment your child receives depends on what kinds of health problems the cystic fibrosis is causing and how your child’s body responds to different types of treatment. Doctors usually recommend a combination of medicines, home treatment methods (including respiratory and nutritional therapies), and other specialized care to manage the disease.