Cystic Fibrosis Research Paper Essay
Cystic Fibrosis, a very serious inherited genetic disease, is also known as CF and sixty-five roses. This disease affects one in every 3,000 live births. It may first appear in a newborn, but can appear all the way up until a young adult. However, ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections, and CF also affects the reproductive system. Doctors do not know what causes the mucus to thicken. CF’s infections usually lead to death in childhood and early adulthood. Most people infected with CF had a life span into their teens long ago. Now, due to advanced technology, the life span is in the fifties or older. Almost ninety percent of Cystic Fibrosis cases are caused by a mutation of a gene called DeltaF508. The mutation involves a missing amino acid, from the CF gene, called phenylalanine. Scientists have yet to determine the exact function of the CF gene. Cystic Fibrosis is caused by a defective gene that alters a protein regulating the normal movement of salt in and out of cells. This makes secretions thick and sticky in the digestive and respiratory systems.
Cystic Fibrosis is a life threatening disorder. Symptoms can begin during infancy and vary from child to child. The symptoms of each case are different because a person that has CF can do better or worse each day. One of the first signs of CF is excessive amounts of salt in sweat. The rest of the symptoms generally involve the respiratory system. A persistent cough and wheezing is caused by a clogged air tube in the respiratory system. In the digestive system, poor weight gain and greasy stools can be a sign of CF. If a child ever has any of these symptoms, they should seek medical attention as soon as possible. Cystic Fibrosis can lead to many respiratory complications such as: a collapsed lung, bronchiectasis, chronic infections, nasal polyps, and can eventually lead to respiratory failure. CF can also lead to many digestive complications such as: a blocked bile duct, diabetes, nutritional deficiencies, rectal prolapse, and intussusception. Victims of Cystic Fibrosis are at a higher risk of having Osteoporosis because they cannot absorb vitamin D.
They can also have an electrolyte imbalance because they have saltier sweat which upsets the balance of minerals in their blood. Cystic Fibrosis can cause problems in the reproductive system. Cystic Fibrosis patients have many more sexual reproduction problems than a healthy human. In males with CF, they are likely to be infertile because of the tube connecting the testes and the vas deferens is missing or blocked with mucus. In women with CF, pregnancy can be a lot more difficult. Pregnancy can worsen the symptoms of Cystic Fibrosis. Women with CF may also be less fertile than women without CF. Women with CF should always consult with a doctor to know all of the possible risks. In order to get CF, both partners must be a carrier because the CF gene is recessive. If someone is a carrier, they could pass it on to their own child. Cystic Fibrosis tends to run in families, since it is an inherited disease. It is also most common in Caucasians.
Many tests may be performed before a person is ever diagnosed with Cystic Fibrosis. A newborn screening test can be done to check an infants’ blood sample for a certain component related to CF. Many other tests must be completed before diagnosis. A sweat test is necessary for confirmation of CF. If a sweat test is not completely accurate, genetic testing must be performed. The damage to the lungs and intestines can be monitored by imaging tests including: X-rays, Computerized Tomography (CT), and Magnetic Resonance Imaging (MRI). Lung function tests may also have to be performed. These function to measure the size of the lungs, the speed and capacity of air they can breathe in and out, and how well the lungs are delivering oxygen to the blood. Sadly, there is no cure for Cystic Fibrosis. Antibiotics are used to treat and prevent lung infections. Mucus thinning drugs help to reduce the stickiness of mucus, improving lung function.
A bronchodilator helps to relax the muscles and keep airways open. Mechanical devices can also help loosen lung mucus. A chest clapper and an inflatable vest are examples of mechanical devices. People with CF often have to have an implanted feeding tube for extra nutrition because CF harms digestion. If a victim of CF has severe breathing problems, a double lung transplant may be a possibility, but there can also be huge complications. Increased fluid intake can reduce mucus. A person with CF should exercise regularly, stay away from smoke, and encourage hand washing to the whole family. Sometimes, parents can be shocked by the diagnosis of their child with Cystic Fibrosis.
The parents may join a support group. The diagnosed children with the disorder may want to join a CF support group to meet with children just like them. Psychologists are even an option for the whole family. If someone with a family history of Cystic Fibrosis is thinking about having a child, they might want to undergo genetic testing before having children of their own. The test can help determine the risk of having a child with CF. If someone is already pregnant and the test shows that the baby may be at risk of cystic fibrosis, a doctor can conduct additional testing on the developing child. Parents have terminated pregnancies before for the sake of the sickly child and their hearts. Although genetic testing is not for everyone, it is an option to consider.
“Cystic Fibrosis”. The World Book. Volume 4,1971.
“Cystic Fibrosis Overview.” WebMD. 15 Apr. 2012. .
Hopkin, Karen. Ph.D. Understanding Cystic Fibrosis. Jackson: University Press of Mississippi Jackson, 1998.
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