Cystic fibrosis

Overview

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease that causes problems with the ability of different organs in the body to work. More specifically, the buildup of sticky and thick mucus inside the lungs, pancreas, and other organs leads to frequent bacterial lung infections, reduced lung function, and chronic gastrointestinal (digestive) problems. Cystic fibrosis can also impact the liver and reproductive systems. Mucus is vital to lubricating and protecting the linings of the airways, digestive system, reproductive system, and other organs and tissues. In individuals with cystic fibrosis, the mucus that is produced is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These chronic (constant) infections cause coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs; hence the name cystic fibrosis. Additionally, thick mucus can block the ducts of the pancreas reducing the production of insulin. This in turn can prevent digestive enzymes from reaching the intestines to help aid digestion leading to digestion issues including diarrhea, malnutrition, poor growth, and weight loss. A shortage of insulin in adolescence or adulthood can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM). While symptoms can vary among individuals, CF is a life threatening disease, but improvements in treatments have led to an increase in life expectancy and quality of life. There are about 30,000 people living with cystic fibrosis in the United States and an estimated 21,000 adults in Europe and Canada. If you think you have CF, talk to your doctor about having a sweat chloride test.

References
  • "Cystic fibrosis - Genetics Home Reference." National Library of Medicine August 2012. Web. 2 June 2016 Genetics Home Reference]
  • Spoonhower, K.A. & Davis, P.B. "Epidemiology of Cystic Fibrosis." Clinics in Chest Medicine. March 2016. 37(1): 1-8.
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Are there other names for cystic fibrosis?

How common is cystic fibrosis?

What is the usual abbreviation for cystic fibrosis?

What role does mucus play in cystic fibrosis?

Are there variant forms of cystic fibrosis?

Are there other names for cystic fibrosis?

Cystic fibrosis can also be referred to as cystic fibrosis of the pancreas, fibrocystic disease of the pancreas, mucoviscidosis, mucoviscidosis of the pancreas, and pancreas fibrocystic disease. It is commonly abbreviated in medical journals and in conversations as CF. For a list of other names for cystic fibrosis, you may check the Genetics Home Reference webpage.

References
How common is cystic fibrosis?

Cystic fibrosis (CF) is a common genetic disease within the Caucasian population in the United States. The disease occurs in 1 in 2,500 to 3,500 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. There are currently about 30,000 individuals living with CF in the United States. If you are having genetic testing for cystic fibrosis, it will be important to make the laboratory aware of your ethnic group to help the laboratory get the most accurate results.

References
  • Moskowitz S.M. et al. "CFTR - related disorders." Gene Reviews. 19 February 2008. Web GeneReviews
  • National Library of Medicine. "Cystic fibrosis - Genetics Home Reference." August 2012. Web. 2 June 2016 Genetics Home Reference
What is the usual abbreviation for cystic fibrosis?

Cystic fibrosis is abbreviated CF. If you are reading an article about cystic fibrosis, be sure to confirm they are shortening cystic fibrosis to CF.

References
What role does mucus play in cystic fibrosis?

Mucus is a slippery substance needed to lubricate and protect the linings of the airways, digestive system, reproductive system, and other organs and tissues. The body in individuals with cystic fibrosis makes abnormally thick and sticky mucus. This thick, sticky mucus traps bacteria and other disease causing particles and cannot be easily expectorated (coughed up) leading to constant infections. This abnormal mucus can cause clogs in the airways of the lungs leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation (swelling). Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Additionally, thick and sticky mucus can block the ducts of the pancreas and lead to digestive problems and a form of diabetes known as cystic fibrosis-related diabetes mellitus. If you have CF and you have any of these symptoms, it is important to talk to your regular doctor about the need to be treated by a specialists for these complications.

References
  • National Library of Medicine. "Cystic fibrosis - Genetics Home Reference." August 2012. Web. 2 June 2016 Genetics Home Reference
Are there variant forms of cystic fibrosis?

Depending on which genetic changes (mutations) a person has, they can be affected in different ways by cystic fibrosis (CF). Different mutations in the CFTR gene,which does not function properly in those with (cystic fibrosis) CF, can lead to different levels of symptom severity. Individuals with better pancreatic function may experience milder disease and may live longer. Talk to a doctor who is experienced in treating CF to better understand the severity of pancreatic function.

Some males with genetic changes (mutations) in the CFTR gene may only have congenital absence of the vas deferens (CAVD). CAVD is the cause of infertility in males with CF. If you are a male with CF and are experiencing infertility, a reproductive endocrinologist can help your understand your options for having children.

References
  • Moskowitz S.M. et al. "CFTR - related disorders." Gene Reviews. 19 February 2008. Web GeneReviews

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