Cystic fibrosis

Información en español Title

Other Names:

Mucoviscidosis; CF

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Male Reproductive Diseases; Newborn Screening See More

Summary Summary

Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive.^[1]^[2]^[3] Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.^[2]

Last updated: 9/22/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 22 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Biliary cirrhosis		0002613
Decreased circulating antibody level		0004313
Exocrine pancreatic insufficiency	Inability to properly digest food due to lack of pancreatic digestive enzymes	0001738
Immunodeficiency	Decreased immune function	0002721
Malabsorption	Intestinal malabsorption	0002024
Pulmonary fibrosis		0002206
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
5%-29% of people have these symptoms
Dehydration		0001944
Hepatomegaly	Enlarged liver	0002240
Percent of people who have these symptoms is not available through HPO
Asthma		0002099
Autosomal recessive inheritance		0000007
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Chronic lung disease		0006528
Cor pulmonale		0001648
Elevated sweat chloride		0012236
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hypercalciuria	Elevated urine calcium levels	0002150
Male infertility		0003251
Meconium ileus		0004401
Rectal prolapse	Rectum protrudes through anus	0002035
Recurrent bronchopulmonary infections		0006538
Recurrent pneumonia		0006532

Showing of 22 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Cause Cause

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.^[3] 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.^[1]

Last updated: 5/23/2017

Inheritance Inheritance

CF is inherited in an autosomal recessive manner.^[4]^[1]^[5] 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: 5/16/2017

Diagnosis Diagnosis

CFTR is the only gene known to be associated with cystic fibrosis. Reasons for genetic testing or screening of this gene may include:^[4]

Diagnosis in individuals with symptoms of CF or with congenital absence of the vas deferens (CAVD)
Prenatal diagnosis of a fetus at risk
Carrier testing for at-risk relatives and their reproductive partners or for population screening
Preimplantation genetic diagnosis for pregnancies at high risk for CF

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: 6/22/2012

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
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.

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Aztreonam (Brand name: Cayston) - Manufactured by Gilead Sciences
FDA-approved indication: To improve respiratory symptoms in cystic fibrosis (CF) patients with Pseudomonas aeruginosa
National Library of Medicine Drug Information Portal
Ivacaftor (Brand name: Kalydeco) - Manufactured by Vertex Pharmaceuticals, Inc.
FDA-approved indication: August 2018, ivacaftor (KALYDECO) received expanded approval for the treatment of cystic fibrosis (CF) in patients age 12 months and older who have one mutation in the CFTR gene that is responsive to ivacaftor potentiation based on clinical and/or in vitro assay data. It is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Lumacaftor/ivacaftor (Brand name: Orkambi) - Manufactured by Vertex Pharmaceuticals Inc.
FDA-approved indication: August 2018, lumacaftor/ivacaftor (Orkambi) received expanded approval for the treatment of cystic fibrosis (CF) in patients age 2 years and older who are homozygous for the F508del mutation in the CFTR gene.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Dornase alfa (Brand name: Pulmozyme®) - Manufactured by Genentech, Inc.
FDA-approved indication: In conjunction with standard therapies in the management of cystic fibrosis patients to reduce the frequency of respiratory infections requiring parenteral antibiotics and to improve pulmonary function.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Tezacaftor and Ivacaftor combination therapy (Brand name: Symdeko) - Manufactured by Vertex Pharmaceuticals Inc.
FDA-approved indication: February 2018 approved for the treatment of patients with cystic fibrosis (CF) aged 12 years and older who are homozygous for the F508del mutation or who have at least one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to tezacaftor/ivacaftor based on in vitro data and/or clinical evidence.
National Library of Medicine Drug Information Portal
Tobramycin for inhalation (Brand name: Tobi®) - Manufactured by Novartis Pharmaceuticals Corp
FDA-approved indication: Management of cystic fibrosis patients with P.aeruginosa.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Statistics Statistics

More than 30,000 people in USA are living with cystic fibrosis (more than 70,000 worldwide).^[2]

In the United States, the following are statistics about the chance to be a carrier of a CFTR gene mutation:^[6]^[7]

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

Last updated: 5/23/2017

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Cystic fibrosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
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.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Cystic fibrosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Cystic fibrosis:
Cystic Fibrosis Foundation Patient Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
Toll-free: 1-800-FIGHTCF (800-344-4823)
Telephone: +1-301-951-4422
Fax: +1-301-951-6378
E-mail: info@cff.org
Website: https://www.cff.org/
Cystic Fibrosis Research, Inc.
1731 Embarcadero Road, Suite 210
Palo Alto, CA 94303
Toll-free: 1-855-237-4669
Telephone: +1-650-665-7576
Fax: +1-650-561-4074
E-mail: cfri@cfri.org
Website: https://cfri.org/
Jewish Genetic Disease Consortium (JGDC)
450 West End Ave., 6A
New York, NY 10024
Toll-free: 866-370-GENE (4363)
Telephone: 855-642-6900
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org

Organizations Providing General Support

American Lung Association
55 W. Wacker Drive, Suite 1150
Chicago, IL 60601
Toll-free: 1-800-548-8252 (1-800-LUNGUSA)
E-mail: info@lung.org
Website: https://www.lung.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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.
The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.
The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Parent and Caregiver Resources

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.

Community Resources

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.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American College of Obstetricians and Gynecologists (ACOG) has information on Cystic Fibrosis: Prenatal Screening and Diagnosis.
The March of Dimes (MOD) has a fact sheet on cystic fibrosis.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Cystic fibrosis. This website is maintained by the National Library of Medicine.
The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In-Depth Information

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.
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic fibrosis. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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.

News & Events News & Events

News

Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

Other Conferences

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.