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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cystic-fibrosis/overview/5812 • DATE UPDATED: 2016-06-15

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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