Cystic Fibrosis Essay

1151 Words5 Pages
Cystic Fibrosis Summary Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system. Cystic fibrosis is due to a mutation in the cystic fibrosis gene on chromosome 7. The cystic fibrosis gene encodes a protein known as the cystic fibrosis trans membrane regulator (CFTR). The abnormal CFTR protein in patients with cystic fibrosis leads to disruption of chloride channels on the cells. Cystic fibrosis is characterized by the production of abnormal mucus that is excessively thick and sticky. The abnormal mucus leads to blockages within the lungs and airways. This leads to repeated, serious lung infections that can damage the lungs. Lung function often starts to decline in early childhood in people who have cystic fibrosis. Over time, permanent damage to the lungs can cause severe breathing problems. The thick, sticky mucus also can block tubes, or ducts, in the pancreas. As a result, the digestive enzymes from the pancreas can't reach the small intestine, causing impaired absorption of fats and proteins. This can cause vitamin deficiency and malnutrition. Due to the defect in chloride channels, cystic fibrosis also causes the sweat to become very salty. Every person inherits two CFTR genes -- one from each parent. Cystic fibrosis is inherited in an autosomal recessive manner; children who inherit a faulty gene from each parent will have cystic fibrosis. Children who inherit one faulty gene and one normal gene will be "CF carriers." Cystic fibrosis carriers usually have no symptoms of cystic fibrosis, but they can pass the faulty gene on to their children. About 30,000 people in the United States have cystic fibrosis. It is one of the most common inherited diseases among Caucasians. About 1,000 new cases of cystic fibrosis are diagnosed each year. The symptoms of cystic fibrosis vary from person to person and over time. Doctors diagnose

More about Cystic Fibrosis Essay

Open Document