Cystic fibrosis

What causes cystic fibrosis?

Mutations in a gene called cystic fibrosis transmembrane regulator (CFTR) cause CF. More than 900 mutations in this gene have been found. This gene provides the instructions for the CFTR protein. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is defective and the cells do not release the chloride. The result is an improper salt balance in the cells which leads to thick, sticky mucus. When mucus clogs the lungs, it can make breathing very difficult, and causes bacteria to get stuck in the airways, resulting in inflammation and infections. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems.

Last updated on 05-01-20

What are the current genetic tests for cystic fibrosis?

CFTR is the only gene known to be associated with cystic fibrosis. Reasons for genetic testing or screening of this gene may include:

More information about genetic testing for cystic fibrosis is available on The National Human Genome Research Institute’s Web site and can be viewed by clicking here.

Last updated on 05-01-20

How is cystic fibrosis (CF) inherited?

CF is inherited in an autosomal recessive manner. This means that to have CF, a person must have a mutation in both copies of the CFTR gene in each cell. People with CF inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms.

When two carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to have CF
  • 50% (1 in 2) chance to be a carrier of CF like each parent
  • 25% chance to not have CF and not be a carrier

When a carrier of CF has a child with a person with CF, each child has a:

  • 50% (1 in 2) chance to have CF
  • 50% (1 in 2) chance to be a carrier of CF

A helpful diagram/pictures of both of these situations can be found on the Carrier Testing for CF page of the Cystic Fibrosis Foundation website.

Last updated on 05-01-20

What is the carrier frequency of cystic fibrosis (CF) and the number of people who have cystic fibrosis in the United States ?

More than 30,000 people in USA are living with cystic fibrosis (more than 70,000 worldwide).

In the United States, the following are statistics about the chance to be a carrier of a CFTR gene mutation:

  • 1 in 29 Caucasian-Americans
  • 1 in 46 Hispanic-Americans
  • 1 in 65 African-Americans
  • 1 in 90 Asian-Americans

Last updated on 05-01-20

Clinical Research Resources

NIDDK Cystic fibrosis research program

The Cystic Fibrosis Research Program is funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) to support investigator-initiated research grants encompassing both fundamental and clinical studies of the etiology, molecular pathogenesis, pathophysiology, diagnosis, and treatment of cystic fibrosis and its complications.

Last updated on 04-27-20

Community Resources

Institute for Community Inclusion

The Institute for Community Inclusion (ICI) supports the rights of children and adults with disabilities to participate in all aspects of the community. As practitioners, researchers, and teachers, they form partnerships with individuals, families, and communities.

Last updated on 04-27-20

Financial Resources

Catalyst Center

The Catalyst Center is dedicated to improving health care coverage and financing for children and youth with special health care needs. They provide a directory of organizations, sorted by state, which may be able to provide assistance to families with questions about coverage and financing of care for children with special health concerns.

Last updated on 04-27-20

Patient Advocate Foundation

The Patient Advocate Foundation's Web site features tools that generate a list of national and regional resources which are dedicated to improving access to quality care and decreasing the financial burden of medical treatment. They have separate tools for those who are uninsured and underinsured:
National Uninsured Resource Directory
National Underinsured Resource Directory

Last updated on 04-27-20

Healthcare Resources

Cystic Fibrosis Care Center Network

The Cystic Fibrosis Foundation has a directory of cystic fibrosis care centers nationwide, including programs for children and adults. These centers provide specialized care and also participate in clinical research.

Last updated on 04-27-20

GARD’s Genetics Resources Page

GARD's Genetics Resources Web page offers a collection of resources that provide information on genes, genomics, and genetic conditions, including family health history tools, a glossary of genetic terms, and more.

Last updated on 04-27-20

In-Depth Information

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, and Sosnay PR. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation J Pediatr 2017;181 S:S4-15.

Last updated on 04-27-20

Newborn Screening

Newborn Screening Coding and Terminology Guide Cystic fibrosis

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Other Conferences

Cystic Fibrosis Foundation

The North American Cystic Fibrosis Conference is held every year to help advance CF research and care. This meeting is sponsored by the Cystic Fibrosis Foundation. It brings together scientists, clinicians and caregivers from around the world to discuss and share ideas on the latest advances in CF research, care and drug development and to exchange ideas about ways to improve the health and quality of life for people with CF.

Last updated on 04-27-20

Parent And Caregiver Resources

Family Voices

Family Voices aims to achieve family- centered care for all children and youth with special health care needs and/or disabilities. They provide families with resources and support to make informed decisions, advocate for improved public and private policies, and build partnerships among families and professionals. Click on the link to find a Family-to-Family Health Information Center in your state.

Last updated on 04-27-20

Selected Full-Text Journal Articles

ACMG cystic fibrosis screening

In 2002, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current, initiated a review of the scientific literature and other available data and practices. The Working Group summarized its major recommendations with the supporting justification for these decisions in an article by Watson et al. titled "Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics." To access this policy statement, visit the link above.

Last updated on 04-27-20

Name: Cystic Fibrosis Foundation 4550 Montgomery Ave. Suite 1100 N
Bethesda, MD, 20814, United States
Phone: 301-951-4422 Toll Free: 800-FIGHTCF (800-344-4823) Fax : 301-951-6378 Email: info@cff.org Url: http://www.cff.org
Name: Cystic Fibrosis Research, Inc. 1731 Embarcadero Road, Suite 210
Palo Alto, CA, 94303, United States
Phone: 650-665-7576 Toll Free: 855-237-4669 Fax : 650-561-4074 Email: cfri@cfri.org Url: http://www.cfri.org
Name: Jewish Genetic Disease Consortium (JGDC) 450 West End Ave., 6A
New York, NY, 10024, United States
Phone: 855-642-6900 Toll Free: 866-370-GENE (4363) Fax : 212-873-7892 Email: info@jewishgeneticdiseases.org Url: http://www.JewishGeneticDiseases.org
Name: American Lung Association 55 W. Wacker Drive, Suite 1150
Chicago, IL, 60601, United States
Toll Free: 1-800-548-8252 (1-800-LUNGUSA) Email: info@lung.org Url: https://www.lung.org/
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: http://www.marchofdimes.com/contactus.html Url: http://www.marchofdimes.com/

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
Trikafta elexacaftor/tezacaftor/ivacaftor
Orkambi lumacaftor/ivacaftor
Kalydeco ivacaftor
Symdeko Tezacaftor and Ivacaftor combination therapy
Cayston aztreonam
Pulmozyme® Dornase alfa
Tobi® Tobramycin for inhalation

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