What's Going Around?
Cystic Fibrosis
Cystic fibrosis is an inherited genetic disorder. A person inherits thedisease from their parents. Cystic fibrosis affects the mucus and sweat glands of the body and is caused by a defective gene. Thick mucus is formed in the breathing passages of the lungs and this predisposes the person to chronic lung infections. Cystic fibrosis can also affect the sweat glands and the male reproductive system. The gene that causes cystic fibrosis is a recessive gene, which means in order to get the disease you must inherit the gene from both of your parents. If you only inherit the gene from one parent, you become a carrier (you will not get the disease, but you can pass the gene on to your children). If you are a carrier and you and another person who is a carrier have a baby together, each child will have a 25 percent chance of having the disease and a 50 percent chance of being a carrier.
Most males with cystic fibrosis are infertile. About 1 in 2500 Caucasians is affected, and 2-5% of Caucasians carry the cystic fibrosis gene. It is the most common fatal hereditary disorder affecting Caucasians in the United States. It is most common among Caucasians of Northern or Central European descent and is much less common in other ethnic groups. Risk factors include a family history of cystic fibrosis or unexplained infant death.
In the respiratory system, the abnormal mucus obstructs airways and also creates conditions that lead to repeated infections in the lungs. In the digestive system, the abnormal mucus can obstruct ducts in organs involved in digestion. Cystic fibrosis can interfere with the normal processes of the liver, the pancreas (the organ that secretes the hormone insulin, which the body uses to break down sugar and that produces digestive enzymes) as well as other organs that are part of the digestive process. This makes it difficult for persons with cystic fibrosis to effectively digest food and absorb nutrients. The digestive problems can usually be treated by taking medicine daily. To treat lung problems, most children with CF need to have respiratory therapy for about a half hour every day; this helps clear mucus from the lungs.
Why should I be interested in cystic fibrosis carrier testing?
- The purpose of CF carrier testing is to see if a couple is at increased risk for giving birth to a child who will have CF.
- Cystic fibrosis carrier testing can be conviently performed in our laboratory on a sample of 5mL of Whole blood.
Medicine has advanced the treatment of Cystic Fibrosis (CF) significantly in the past 10 years. Various measures that clear the lungs are becoming standardized. In 1989 the gene etiology of this condition was recognized and gene therapy is now being actively pursued. The CF patient fails to have normal mucus clearance. Thick tenacious mucus keeps bacteria from being cleared and prevents antibiotics from being effective. Clearance of mucus from the chest therefore is a paramount treatment objective. Various physical therapy methods include chest percussion, forceful exhalation, various dilators, postural drainage. The flutter device uses sound vibration to help reduce the thickness of the mucus. Inhalation of drugs that break down the structure of the mucus are in use.
A similar thick fluid causes sinus infections and nasal polyps are common. Nasal polyps are swollen sacks of tissue, like a bag of water, where the liquid is maintained within the cells so that the cells expands and blocks the nose. A mucocele can often develop in the frontal sinus, similar to polyps, a liquid filled membrane expands and puts pressure on the sinus wall. Headaches are common in the frontal sinus area, above the eyes.