1 Mar 2021

Cystic fibrosis  낭성 섬유종

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Cystic fibrosis  낭성 섬유종

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

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.

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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 
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

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.

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.

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.
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.

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