What is Cystic Fibrosis?

There are many well known and understood diseases, such as cancer and AIDS, which are discussed in great depth and research is conducted every day to find a cure. However, there are also many other diseases that affect the human body that the general public has relatively little knowledge about. One such disease is Cystic Fibrosis. Sure, we've all heard of the disease but what exactly is it? Is it contracted or inherited? And what heath problems are associated with the disease.

To begin with, Cystic Fibrosis (CF) is a disease that affects the secretory glands of a patient, including those that produce mucus, sweat, saliva, and digestive acids. In a healthy individual, these secretory glands secrete thin, slippery, or watery substances. These substances "keep the linings of certain organs moist and prevents them from drying out or getting infected" (National Heart Lung and Blood Institute, 2009). However, in a CF patient these secretions become thick and sticky and blocks tube and ducts of the pancreas and lungs among other organs (Mayo Clinic Staff, 2008).

Cystic Fibrosis is an inherited disease, "caused by a mutation in a large gene chromosome 7 that encodes a protein called the cystic fibrosis transmembrane conductance regulator, of CFTR" (Vastag, 2003). All children inherit two CFTR genes, one from their mother and one from their father during egg fertilization. If one parent is a carrier of a mutated CFTR gene, a child cannot inherit Cystic Fibrosis. However, if each parent is a carrier of CF each child they conceive will have a 25% chance of inheriting two normal CFTR genes; a 50% chance of inheriting one mutated CFTR gene and one normal gene; and a 25% chance of inheriting two mutated CFTR genes and will be diagnosed with Cystic Fibrosis before birth or shortly after (National Heart Lung and Blood Institute, n.d.).

Signs and symptoms of Cystic Fibrosis may present themselves in the respiratory, digestive, and reproductive system and may be accompanied by frequent coughing with the presence of blood or mucus, and frequent and acute bacterial lung infections that rarely respond to antibiotics (National Heart Lung and Blood Institute, n.d.). Digestive symptoms include a lack of fat and protein absorption which "can cause ongoing diarrhea or bulky, foul smelling, greasy stools;" younger CF patients may also have painful blockage of the intestines (National Heart Lung and Blood Institute, n.d.). Finally, Cystic Fibrosis patients may also suffer from delayed sexual development and infertility or sterility (National Heart Lung and Blood Institute, n.d.).

Years ago Cystic Fibrosis was a death sentence and not many children lived to see their teenage years or early twenties. Today, however, the disease is significantly more treatable and a relatively normal life is possible. Unfortunately, there is no cure for Cystic Fibrosis and is still fatal to the majority of CF patients. The average age of survival of Cystic Fibrosis patients is thirty-seven years old, although patients have been able to manage their health and live longer with proper nutrition, exercise, and frequent visits to their physician (Cystic Fibrosis Foundation, n.d.).

Cystic Fibrosis Foundation. (n.d.). What You Need To Know. Cystic Fibrosis Foundation. Retrieved October 20, 2009, from http://www.cff.org/AboutCF/.

Mayo Clinic Staff. (2008). Cystic Fibrosis. Mayo Clinic. Retrieved October 20, 2009, from http://www.mayoclinic.com/health/cystic-fibrosis/DS00287.

National Heart Lung and Blood Institute. (n.d.). What Causes Cystic Fibrosis? National Heart Lung and Blood Institute. Retrieved October 18, 2009, from http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_causes.html

Vastag. (2003). Cystic Fibrosis Gene Testing a Challenge: Experts Say Widespread Use is Creating Unnecessary Risks. The Journal of the American Medical Association. 289, 2923-2924. Retrieved October 27, 2009, from EBSCO host http://jama.ama-assn.org/cgi/content/full/289/22/2923?eaf.