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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cystic fibrosis


Other Names for this Disease

  • CF
  • Mucoviscidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is cystic fibrosis?

What causes cystic fibrosis?

Where can I get information on cystic fibrosis carrier screening?

What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. 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. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 4/4/2013

What causes cystic fibrosis?

Mutations in a single gene, namely the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, cause CF. More than 900 mutations in this gene have been identified. 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.[2]
Last updated: 8/23/2011

Where can I get information on cystic fibrosis carrier screening?

The Genetic Testing Registry (GTR) provides a list of laboratories performing carrier testing for cystic fibrosis. 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.

You can find information on cystic fibrosis carrier screening from the Cystic Fibrosis Foundation at the following link: http://www.cff.org/AboutCF/Testing/GeneticCarrierTest/

If you or your partner are interested in carrier screening for cystic fibrosis, you might consider speaking with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:  
Last updated: 3/14/2014

References
  1. Cystic Fibrosis . Genetics Home Reference Web site. January 2008; http://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed 8/23/2011.
  2. Learning about Cystic Fibrosis. National Human Genome Research Institute . July 2010; http://www.genome.gov/page.cfm?pageID=10001213 . Accessed 8/23/2011.


Other Names for this Disease
  • CF
  • Mucoviscidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.