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Genetic Disease Cystic Fibrosis, Cause, Symptoms, Diagnosis and Treatment

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Causes

Cystic fibrosis is a disease that comes from a difference in a person’s genes. Any parent with the CF gene can pass it to their children. Although those parents may not actually have CF, they may carry the gene that could be passed on to their baby. When both parents are carriers of the CF gene, there is a one in four chance that their child will inherit the disease. If their child does not inherit the illness, the child could still be a carrier just like both of her parents, so she could pass on the CF gene when she has her own babies. And because CF is a disease that’s passed through genes, it’s most common in the groups of people that carry the CF gene. So there’s a higher chance a person will have CF if it runs in the family.

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Description

When someone has CF, her body has trouble transporting water and salt across the cells that make up the organs of the body, such as the lungs and the pancreas. This causes the body’s mucus (the slimy secretions that moisten and protect body tissues) to become extra thick and sticky. The mucus clogs the lungs and makes it difficult to breathe, and this can lead to infections, coughing, and wheezing. Cystic fibrosis also affects the pancreas (an organ that makes lots of proteins called hormones and enzymes) by not allowing it to deliver enzymes that digest food in the intestines. This is why many people with CF are often very thin and have trouble gaining weight. Kids with CF also may have bulky bowel movements and go more frequently.

How it can be Detected

The sweat test determines the amount of chloride in the sweat. There are no needles involved in the procedure. In the first part of the test, a colorless, odorless chemical, known to cause sweating, is applied to a small area on an arm or leg. An electrode is then attached to the arm or leg, which allows the technician to apply a weak electrical current to the area to stimulate sweating. Individuals may feel a tingling sensation in the area, or a feeling of warmth. This part of the procedure lasts approximately five minutes. The second part of the test consists of cleaning the stimulated area and collecting the sweat on a piece of filter paper or gauze or in a plastic coil. Thirty minutes later, the collected sweat is sent to a hospital laboratory for analysis. The entire collection procedure takes approximately one hour.

Treatment

The treatment of CF depends upon the stage of the disease and the organs involved. Clearing mucus from the lungs is an important part of the daily CF treatment regimen. Chest physical therapy is a form of airway clearance done by vigorous clapping on the back and chest to dislodge the thick mucus from the lungs. Other types of treatments include TOBI (tobramycin solution for inhalation), an aerosolized antibiotic used to treat lung infections; Pulmozyme, a mucus-thinning drug shown to reduce the number of lung infections and improve lung function; and azithromycin, an antibiotic recently proven to be effective in people with CF whose lungs are chronically infected with the common Pseudomonas aeruginosa bacteria.

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