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, including breathing, digestion, and growth. More than 30,000 people in the United States today are living with this disorder, according to the Cystic Fibrosis Foundation.

The disease causes a mutation (change) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a part of the body that determines your traits. This change allows chloride to get stuck inside the cells, leading to a build-up of thick, sticky mucus that interferes with the proper functioning of multiple organs and systems.

The respiratory system is one of the first systems to be affected. As a result, a child with cystic fibrosis can have repeated lung infections. Over time, it may become difficult for them to breathe.

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

  • preventing the pancreas from sending enzymes that break down food and absorb nutrition to other parts of the body, which causes malnutrition and growth problems
  • allowing the bile ducts around the liver to become blocked, causing liver damage and scarring

Work with your doctors

No two people with cystic fibrosis will have the exact same course of the disease. This makes it important for each person to work closely with their medical team to create a cystic fibrosis treatment plan tailored to their situation.

What to expect with cystic fibrosis

Cystic fibrosis typically progresses over time, with becoming more severe as the child gets older.

While in the past most children with cystic fibrosis did not survive into adulthood, this is no longer the case thanks to advances in the screenings, diagnosis, and treatments available. This is increasing cystic fibrosis life expectancy. As a result, children with this disease are living into their 30s, 40s, and beyond.

What other risks are associated with cystic fibrosis?

Diabetes: 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. Up to 20 percent of CF patients develop CFRD in their teens, and 40 to 50 percent develop the disease as adults.

Liver disease: As people with cystic fibrosis live longer, their risk of cystic fibrosis liver disease (CFLD) increases. Symptoms often first become noticeable during puberty. 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 cystic fibrosis centers in the U.S. 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 team of clinicians specializing in the care of patients with cystic fibrosis. As a leading participant in the CF Foundation’s Therapeutics Development Network, we participate in over 50 clinical trials evaluating innovations in cystic fibrosis treatment for safety and effectiveness.

Cystic Fibrosis Center

The Cystic Fibrosis Center at Boston Children’s Hospital is exploring new tools and approaches to support patients and families by helping them better manage their disease and improve their quality of life.

The Cystic Fibrosis Center at Boston Children’s Hospital is exploring new tools and approaches.