Guide To Common Genetic Conditions

Cystic Fibrosis

Cystic fibrosis is a potentially fatal genetic disease. It can affect multiple organs and areas of the body. Cystic fibrosis is caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Defects in this gene affect the production of a protein that regulates many fluid substances. As a result, the body sometimes produces too much mucus, saliva, sweat, and other fluids. This can lead to problems with breathing because the lungs become congested with mucus. Other symptoms include sinus problems, abnormal growth, and impaired development of body parts. Men with this condition experience infertility.

Many of the health problems caused by this disorder are secondary to the genetic defect. For example, dehydration from excessive sweating can cause kidney failure or other problems within the organs. Females with this condition tend to have a higher mortality rate for unknown reasons. Cystic fibrosis patients are at increased risk for other diseases, such as diabetes and bone disorders.

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