What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, gastrointestinal tract, pancreas, liver, kidney, and reproductive organs through overproduction of secretions. It is most commonly associated with increased sputum production and frequent lung infections. Other common symptoms include shortness of breath, sinus infections, stunted growth, gastrointestinal ileus, and infertility. There is no cure for CF, but some patients are eligible for lung transplant for improved respiratory function and other treatments are available for symptom management. The average life expectancy for a CF patient is just under 40 years, and most CF deaths are related to the lungs.

CF is classified as an autosomal recessive disorder. It is determined by the functionality of the gene CTFR. CTFR is responsible for bodily secretions including sweat, saliva, mucus, and digestive juices. When this gene is mutated, the thin, slippery secretions of the body become thick and sticky, creating a barrier to normal bodily functions. Most healthy people have two normal copies of the gene CTFR. Some people have one normal copy and one abnormal copy. These people are termed “carriers” and they do not have any CF symptoms. When two carriers procreate, there is a 25% chance that the offspring will inherit both abnormal genes and have cystic fibrosis. Currently about 30,000 Americans suffer from CF. In the United States, it is most common in Caucasians, followed by Hispanics, Native Americans, African Americans, and least common in Asian Americans.

In the past, CF has been considered a childhood disease, primarily because most CF patients did not live into adulthood, and those who did weren’t able to maintain a job and live independently. In 1959, the average survival of a CF patient was just 6 months. Thanks to recent advancements in treatment and management, CF is no longer a childhood death sentence. Many people are able to live into adulthood with well-managed symptoms that allow for a relatively normal lifestyle. For unknown reasons, men with CF live an average of 40 years in the United States, while women average about 37 years. Some parts of the world screen infants for CF at birth, but the test is not completely accurate, so testing has become controversial. CF is currently undergoing extensive research due to recent increased funding and is a very exciting topic in the field of medicine.

Sources
http://www.nhlbi.nih.gov/health/health-topics/topics/cf.  Published December 26, 2013.  Accessed January 10, 2015.

http://www-uptodate-com.offcampus.lib.washington.edu/contents/cystic-fibrosis-clinical-manifestations-and-diagnosis?source=search_result&search=cystic+fibrosis&selectedTitle=1%7E150 Published June 25, 2014.  Accessed January 10, 2015.