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Cystic Fibrosis

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Cystic Fibrosis

Cystic fibrosis, also known as CF, is an inherited disease that affects the body’s mucus glands. CF is the most common fatal hereditary disorder affecting Caucasians in the United States. CF mostly affects the respiratory and digestive system, but the sweat glands and the reproductive system are usually involved. This disease is found in children and young adults. On average, the life span of a female with CF is 25 years and 30 years for a male with CF. CF affects different patients in different ways. However, treatments are available to increase the average life span.

CF is an autosomal recessive disorder that is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It only occurs in children who have inherited two abnormal copies of a specific gene, one from each parent. A parent can be a CF carrier and not have CF but have one normal copy of this gene and one abnormal copy. CF carriers can pass on their normal copy of their gene or they can pass on their abnormal copy. A child who receives a normal copy from one parent but an abnormal copy from the other parent will be a CF carrier and will not have the disease. Although a child that receives an abnormal gene from both parents will develop CF. If both parents have one abnormal copy of the gene, then each child they produce has a twenty-five percent chance of receiving both abnormal copies and having the disease. Males and females are equally likely to inherit CF.

According to data collected by the Cystic Fibrosis Foundation, about 30,000 Americans, 3,000 Canadians, and 20,000 Europeans have CF. The disease is most common in whites whose ancestors came from Europe, causing about two to five percent of Caucasians to carry the cystic fibrosis gene. Although CF affects people of every race and ethnic group it is less common in African Americans, Native Americans, and Asian Americans. About 2,500 babies are born each year with CF in the United States. One in every twenty Americans is an unaffected carrier of an abnormal CF gene, and these twelve million people usually do not know that they are a CF carrier.

CF affects the respiratory, digestive, and reproductive system. The mutation in the CFTR gene causes a disruption of the chloride transfer across the cell membranes. Chloride ions build up in the cells of the lungs and other organs. The water in the cells stay there to dilute the chloride instead being drawn out by normal chloride movement and the normal secretion of the organs thicken. This thickening of secretion causes people with CF to have thick, sticky mucus. This mucus clogs the lungs and leads to recurring lung and sinus infections and obstructs the ducts of the pancreas which prevents digestive enzymes from reaching the intestines. CF affects the reproductive system in females because they produce a thick cervical secretion that may block sperm entry and prevent them from getting pregnant. Males with CF are almost always sterile because they produce few or no sperm. Also, a thick secretion may block the ducts that carry the sperm, or the ducts may not develop normally.

The symptoms for CF affect different people in different ways and even to different degrees. Some children have symptoms at birth, while other may not have any symptoms for weeks, months, or even years. Also, some children may have mild digestive and respiratory problems, while other may have severe and life-threatening problems and complications. One of the most common symptoms of CF is loss of excessive amounts of salt. This loss can upset the balance of minerals in the blood and may cause abnormal heart rhythms. Parents can notice this symptom when they kiss the affected infant because their skin will be salty-tasting. Another symptom is thick accumulations of mucus in the intestines and lung resulting in malnutrition, poor growth, and eventually permanent lung damage. Lung disease is the cause of death for most CF patients. Other common symptoms are persistent coughing and wheezing, clubbing of fingers and toes, easy

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