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 clog some of the organs in the body, particularly in the lungs and pancreas. Symptoms may include very salty-tasting skin persistent coughing frequent lung infections including pneumonia or bronchitis, wheezing or shortness of breath, poor growth, weight loss, frequent greasy, bulky stools or 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 is inherited in an autosomal recessive pattern.^[1]^[2]^[3] Treatment depends on the symptoms, and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, nutritional supplements, and others. Newer medication such as CFTR modulators have been approved for use in United States. Ongoing research is focused on finding the cure for the disease.^[2]

Last updated: 9/22/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Biliary cirrhosis	Very frequent (present in 80%-99% of cases)
Decreased antibody level in blood	Very frequent (present in 80%-99% of cases)
Exocrine pancreatic insufficiency	Very frequent (present in 80%-99% of cases)
Immunodeficiency	Very frequent (present in 80%-99% of cases)
Malabsorption	Very frequent (present in 80%-99% of cases)
Pulmonary fibrosis	Very frequent (present in 80%-99% of cases)
Recurrent respiratory infections	Very frequent (present in 80%-99% of cases)
Dehydration	Occasional (present in 5%-29% of cases)
Hepatomegaly	Occasional (present in 5%-29% of cases)
Asthma	-
Autosomal recessive inheritance	-
Bronchiectasis	-
Chronic lung disease	-
Cor pulmonale	-
Elevated sweat chloride	-
Failure to thrive	-
Hypercalciuria	-
Male infertility	-
Meconium ileus	-
Rectal prolapse	-
Recurrent bronchopulmonary infections	-
Recurrent pneumonia	-

Last updated: 9/1/2017

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 the genetic disorder, 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 CF

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

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

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: Treatment of cystic fibrosis (CF) in patients age 6 years and older who have a G551D mutation in the CFTR gene
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Lumacaftor/ivacaftor (Brand name: Orkambi) - Manufactured by Vertex Pharmaceuticals Inc.
FDA-approved indication: Treatment of cystic fibrosis in patients age 6 years and older who are homozygous for 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
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

In the United States, the number of people who carry a CFTR gene mutation which causes cystic fibrosis (CF) is about:^[6]^[7]

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

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

Last updated: 5/23/2017

Do you have updated information on this condition? Let us know.

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 studying or have studied 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

The Cystic Fibrosis Foundation started a national patient registry to track the health of people with cystic fibrosis (CF) across the United States. The patient registry report tracks the health of more than 23,000 CF patients who receive care at a CF Foundation-accredited care center.The type of information collected includes state of residence, height, weight, gender, genotype, pulmonary function test results, pancreatic enzyme use, length of hospitalizations, home IVs, and complications related to CF. Click on the Cystic Fibrosis Foundation link to read more.

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

Center for Jewish Genetics
30 South Wells St.
Chicago, IL 60606
Telephone: 312-357-4717
Fax: 312-855-3295
E-mail: jewishgeneticsctr@juf.org
Website: https://www.jewishgenetics.org/
Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
Toll-free: 800-FIGHTCF (800-344-4823)
Telephone: 301-951-4422
Fax: 301-951-6378
E-mail: info@cff.org
Website: http://www.cff.org
Cystic Fibrosis Research, Inc.
1731 Embarcadero Road, Suite 210
Palo Alto, CA 94303
Toll-free: 855-237-4669
Telephone: 650-665-7576
Fax: 650-561-4074
E-mail: cfri@cfri.org
Website: http://www.cfri.org
Jewish Genetic Disease Consortium (JGDC)
315 West 39th Street, Suite 701
New York, NY 10018
Toll-free: 866-370-GENE (4363)
Telephone: 212-362-4675
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org

Organizations Providing General Support

American Lung Association
1301 Pennsylvania Ave NW
Suite 800
Washington, DC 20004
Toll-free: 1-800-548-8252
Telephone: 202-785-3355
Fax: 202-452-1805
E-mail: http://www.lung.org/about-us/contact-us.html
Website: http://www.lung.org/

Do you know of an organization? Send us your suggestions.

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.

Healthcare Resources

The Cystic Fibrosis Foundation funds and accredits 115 cystic fibrosis care centers nationwide, including 94 adult programs. In addition, 54 affiliate programs provide multi-disciplinary care for CF with Foundation support. Staffed by teams of dedicated medical professionals, these centers provide CF care, including nutrition, pulmonary care and gastroenterology, as well as psychosocial specialties. To learn more about these centers as well as find one near you, click on the Cystic Fibrosis Foundation link.
The National Center for Medical Home Implementation (NCMHI) is for health professionals, families, and anyone interested in creating a medical home for all children and youth. A medical home is an approach to providing comprehensive primary care that facilitates partnership between patients, physicians, and families. NCMHI is a cooperative agreement between the Maternal and Child Health Bureau (MCHB) and the American Academy of Pediatrics (AAP) with a mission to ensure that every child and youth has access to a medical home.

Genetics Resources

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 GeneTests, 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.

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) published an education pamphlet on cystic fibrosis titled "Cystic Fibrosis: Prenatal Screening and Diagnosis."
Genetics Home Reference (GHR) contains information on Cystic fibrosis. This website is maintained by the National Library of Medicine.
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.
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.
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

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016

NCATS Co-Sponsored Conferences

The 11th Annual North American Genetic Analysis of ABC Transporters Workshop Wednesday, September 24, 2014 - Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.

Contact: Dr. Michael Dean,(301) 846-5931,deanm@mail.nih.gov

Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research

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. Submit a new question

I have Russell-Silver syndrome (RSS) and my boyfriend has cystic fibrosis. I recently found out that both are caused by mutations of chromosome 7. Does that mean that I could be a carrier of cystic fibrosis (CF)? See answer
My child is 11 years-old and has many of the symptoms of cystic fibrosis. She'll be undergoing testing next week. How common is it to be diagnosed with cystic fibrosis this late in life? See answer
Are carriers of cystic fibrosis at a higher risk for other health conditions? See answer
We have been told that my newborn grandson has been classified as a carrier for cystic fibrosis. I know that if both parents have the defective gene, the child has a 25 percent chance of actually getting CF, and a 50 percent chance of being a carrier. My question is, can the child be a carrier if only one parent has the defective gene?
Thank you. See answer
What are the current genetic tests for cystic fibrosis? How much do they cost? See answer
Is there new information on genes that cause cystic fibrosis? If cystic fibrosis testing was done by amniocentesis 6 years ago, have there been any new findings since then? See answer
Where can I get information on cystic fibrosis carrier screening and the official recommendations for pregnant women? See answer
Could you please send any and all information on Cystic Fibrosis. One of the staff members has a child with CF and stated the child is not suppose to be in the same classroom with another child with CF. I would like to know why that is? I assume it is related to the altered immunity state. How does this work? What do they do to address this problem? See answer