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Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disease that is caused by an abnormality in the way body cells process and secrete common salts (sodium and chloride). This disorder is characterized by frequent respiratory tract infections and gastrointestinal problems. It is most commonly seen in the Caucasian population. It is usually diagnosed in early childhood, although about ten percent of people with CF are diagnosed after the age of eighteen. CF is inherited in an "autosomal recessive" fashion; that is, it may be inherited when both parents either have CF or carry the abnormal gene.

Respiratory problems in CF are common and may include frequent respiratory tract infections, cough, wheezing, and sputum (phlegm) production. Respiratory tract infections may occur when thickened mucous secretions obstruct the bronchial airways. Over time, the cough may become severe and produce thick dark phlegm. The principle diagnostic test for CF is the "chloride sweat test" which consists of demonstrating an abnormally high amount of salt in the sweat. Once diagnosed, the physician will follow the progression of CF with frequent office visits, regular measurement of height and weight in children, general physical examinations (with attention to the lungs and abdomen), and occasional chest x-rays and pulmonary function tests.

Treatment of CF includes a variety of interventions aimed at four primary goals. The first goal is to clear mucus from the airways with the help of postural drainage, therapeutic coughing exercises, and chest percussion (rhythmic drumming or vibrating of the chest). The second goal is to relieve symptoms (such as wheezing and shortness of breath) with inhalers or other breathing treatments. The third goal is to prevent and control infections by assuring that patients are up to date on their vaccinations and by utilizing early intervention with antibiotic therapy when infection is recognized. The final goal is to improve nutrition with digestive enzymes at mealtimes and daily vitamin supplements.

As treatment options improve, the quality of life and survival of patients with CF have increased. Lung transplantation and gene therapy are treatments for CF that may be promising in the future.

Gastrointestinal symptoms are also commonly seen. Five to fifteen percent of patients with CF present shortly after birth with a specific type of bowel obstruction called "meconium ileus". Later in childhood, patients with CF may experience an inability to digest fats and proteins due to an abnormally low amount of pancreatic digestive enzymes. Thickened bowel secretions can cause intestinal obstruction similar to that seen in newborns.

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