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Cystic Fibrosis

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Cystic Fibrosis

Cystic fibrosis, an inherited disease, can alter the life of a human being in drastic measures. Many organs, such as the lungs, pancreas, and digestive system are deeply affected by this arduous condition. Caused by a defective gene, cystic fibrosis affects the cells in the epithelium, which is the layer of cells that lines the passages in the bodies organs. The cells in the epithelium create sweat, mucus, and digestive juices. Normally, these fluids are thin and slippery. However, cystic fibrosis cause these secretions to become more thick and sticky. These abnormal secretions clog up tubes and passageways in the body, disabling a person’s ability to breathe properly, digest properly, and receive the proper nutrients.

Cystic fibrosis is caused by mutations on the cystic fibrosis transmembrane conductance regulator gene located on chromosome 7. The CFTR gene produces the CFTR protein, which normally functions as a channel across the membrane of cells that make fluid substances such as saliva and mucus. The CFTR protein also carries sodium chloride ions in and out of cells, which is required in order to produce thin, watery mucus that protects vital tissues in the body. However, when a person inherits the defective CFTR gene from their parents, the body will instead create compact, gooey mucus that not only hinders pancreatic expulsions of digestive enzymes in the small intestine, but also blocks air tubes in the lungs, greatly worsening one’s ability to breathe fluidly and comfortably. Cystic fibrosis is an autosomal recessive genetic disorder.

Cystic fibrosis causes many medical problems that are dealt with by patients every day. The disease mostly affects two organs: the lungs and the pancreas. In the lungs, the thick mucus will build up in the airway, causing respiratory damage and making breathing difficult. This constant buildup of mucus poses the other threat of a bacterial infection. Bacteria can easily grow as mucus clogs the airways of the lungs. People dealing with cystic fibrosis can undergo many serious bacterial infections in the lungs that repeat and do not go away. As these infections persist, the lungs decay and become more damaged. Furthermore, in the pancreas, the cystic fibrosis disease affects the tubes, ducts, and passageways by clogging them with thick mucus. The usual function of the pancreas is to create digestive enzymes that are sent to the small intestine for digestion. However, due to cystic fibrosis, these enzymes can not be transported to the small intestine because of the extreme blockage. Therefore, when food is sent into the small intestine, fats and proteins will not be fully absorbed into the bloodstream. Vitamin deficiency and malnutrition can be seen in many patients struggling with cystic fibrosis because healthy nutrients are being passed through the small intestine without being absorbed. In addition, stomach pain will develop due to severe constipation and intestinal gas. Other problems caused by cystic fibrosis are dehydration and fatigue. These problems can be attributed to the large amounts of salt that are found in the sweat of cystic fibrosis patients. Compared to a normal person’s sweat, the sweat of a person with cystic fibrosis contains large amounts of salt. This disturbs the balance of minerals in the body and can lead to countless health problems. Infertility is also an issue that comes with cystic fibrosis. In almost all men with cystic fibrosis, fertility is impossible. This is due to the fact that the tube connecting the testes and prostate gland is clogged up with mucus. In women, pregnancy is harder to achieve with cystic fibrosis but it is still possible. A problem concerning pregnant women with cystic fibrosis is that the disease may worsen.

In the United States of America, nearly 30,000 people have inherited cystic fibrosis from their past relatives. One child out of every 3,500 children is diagnosed with cystic fibrosis at birth and approximately 1,000 different cases of cystic fibrosis are documented every year. Clearly, cystic fibrosis is a very common genetic disorder in the United States as well as other parts of the world. For example, in Canada, the birth rate of cystic fibrosis has grown since 1988 to 1 in every 1,308 people. In the United Kingdom, the birth rate of this genetic disorder is approximately 1 in every 2,400 people and nearly 4% of all people are carriers of the disease. Caucasians possess the largest risk of inheriting cystic fibrosis, while Asian Americans possess the lowest, and African-Americans are in the middle. For instance, 1 in every 2,500 to 3,500 Caucasians in the US inherit cystic fibrosis, whereas African-Americans are affected about 1 in every 17,000 people and Asian Americans are affected about 1 in every 90,000 people. This immense difference is likely due to each race’s genetic variation. The bodies of Caucasians are less immune to cystic fibrosis than those of other ethnic groups, such as the aforementioned African-Americans and Asian Americans. Cystic fibrosis can deeply affect the lives of people who carry the disease.

Today, people living with cystic fibrosis encounter various challenges throughout their daily lives that prevent them from living a normal life. To begin, a person suffering from cystic fibrosis must



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