Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic (inherited) chronic disease that can affect many parts of a child's body, most commonly the lungs and digestive system.

CF causes a buildup of thick, sticky mucus throughout the body. One of the first systems to show signs of CF is the respiratory system. The lungs become susceptible to repeated infections and over time, it becomes difficult for a child with CF to breathe.

Thickened mucus also builds up in other organs and can cause the following problems:

  • the pancreas can not send enzymes that break down food and absorb nutrition to other parts of the body, which causes malnutrition and stunted growth
  • bile ducts around the liver become blocked, causing liver damage and scarring

According to the Cystic Fibrosis Foundation, more than 30,000 people in the United States are living with CF. More than 75 percent of cases are diagnosed by the time a child is 2 years old.

Early treatment for CF can improve a child’s quality of life and increase their life expectancy.

What other risks are associated with CF?

Cystic fibrosis can lead to diabetes if problems with the pancreas become so severe that some of its cells are destroyed. Cystic fibrosis-related diabetes (CFRD) can lead to glucose intolerance and insulin-dependent diabetes.

About 35 percent of CF patients develop CFRD in their 20s, and more than 40 percent develop the disease after age 30.

Cystic fibrosis can also lead to liver disease. As people with CF live longer, the incidence of cystic fibrosis liver disease (CFLD) increases; symptoms often first become noticeable during puberty. People with more severe mutations in the gene responsible for CF are at higher risk of developing CFLD.

About 30 percent of adolescents with CF develop CFLD. In rare cases, CFLD can lead to cirrhosis.

How we care for cystic fibrosis

The Cystic Fibrosis Center at Boston Children's Hospital is one of the oldest and largest CF centers in the United States. We treat more than 600 children and adults each year, providing a broad range of evaluation, diagnosis, treatment and patient education services.

Our Center is staffed by an experienced, multidisciplinary team of clinicians, all of whom have specialized training in the care of patients with cystic fibrosis. As a leading participant in the CF Foundation’s Therapeutics Development Network, our center participates in over 50 clinical trials evaluating innovations in CF treatment for safety and effectiveness.