Cystic Fibrosis Have you ever heard of cysters or fribros, the sisters and brother of the Cystic Fibrosis world? Cystic Fibrosis, commonly known as CF, is a genetic disease that attacks the respiratory system. Would you believe over 10 million Americans today carry the Cystic Fibrosis Gene and don’t even know it. A person with this genetic disease may appear “normal” or healthy to the average individual, but may only have a life expectancy of fourteen. There is a vast majority that does not know what Cystic Fibrosis is, how it may affect the victim of this disease or their family. Where did the disease begin? How does one get this disease? What are the symptoms of cystic fibrosis? How is one diagnosed? How is cystic fibrosis treated? How many and what type of mutations are there? There is so much that many average people do not know about cystic fibrosis. Cystic Fibrosis first came about in 1938, it was recognized from the autopsy results of mal-nourished infants. It was believed that the exocrine ducts were plugged by the abnormal mucus, when resulted in lung infections, and more sadly death. In 1959 identification of mild cases of CF was made possible due to the new knowledge of sweat electrolyte defect and standardization of the sweat test. In 1989, the CF gene was discovered; this made a huge mark in CF history. This required new diagnostic testing. What is cystic fibrosis? Cystic fibrosis is a genetic disease that can be life threating that causes mucus to build up and block some of the organs in the body, mainly the lungs and pancreas. It also can affect the intestine, exocrine sweat glands, hepatobiliary system, and reproductive system. When mucus clogs the lungs, it may cause breathing to be very challenging. The thick mucus also causes bacteria to get trapped in the airways, which causes swelling and infections that in turn lead to permanent lung damage. Mucus also may block the pancreas and digestive tract. The mucus makes it that the digestive enzymes are not able to reach the intestines. A person’s body needs these enzymes to breakdown food, which delivers essential nutrients to aid people growth allowing them to stay healthy. Someone that has cystic fibrosis often need to take enzymes when eating meals and snacks: in order to digest there food because theirs do not work properly. How does one get the disease cystic fibrosis? A person must inherit two defective CF genes one from each parent to have cystic fibrosis. It is an inherited disease that you get only if both your parents carry the CF gene; however if both parents carry the gene that is located on chromosome seven then they have a one fourth chance of passing cystic fibrosis to their offspring. Also they have one half chance of passing the CF gene to their offspring making them a carrier of the CF, but they will not have cystic fibrosis. A “positive” carrier test for CF means that an individual has one mutation of the CF gene. The test results are more than 99 percent accurate when for positive and a negative carrier test result is not as accurate. There are more than 1,800 different mutations of the CF gene which may make it hard to detect. If you have a test that is negative for a mutation of the CF gene, there is still a slight chance you could be a carrier of one mutation. In the U.S. the number of people who carry a CF gene is about: 1 in 29 Caucasian Americans; 1 in 46 Hispanic Americans; 1 in 65 African Americans; and 1 in 90 Asian Americans. In the U.S., the number of people who have CF is about: 1 in 2,500–3,500 Caucasian Americans; 1 in 4,000–10,000 Hispanic Americans; 1 in 15,000–20,000 African Americans; and 1 in 100,000 Asian Americans. One fourth of their children will not be affected at all meaning they will not carry the gene (American Lung Association). What are some common symptoms that someone with cystic fibrosis has? One of the most common symptoms is very salty-tasting skin. They might also have persistent coughing wheezing or even shortness of breath. Many times someone with cystic fibrosis will have an excessive appetite, but have trouble gaining weight. Another common symptom is greasy or bulky stools. Those are the most common symptoms of an individual with cystic fibrosis (American Lung Association). How do doctors diagnose a person with cystic fibrosis? People who have cystic fibrosis have more salt then normal between 2 and 5 times more salt in their sweat. Therefore doctors can give an individual a sweat test to measure the amount of salt (sodium chloride) in a persons sweat. Sweat is collected from the individuals arm or leg and then is taken to a laboratory to be examined. In newborns, doctors are able to measure the quantity of a protein called trypsinogen in the blood. If an individual has cystic fibrosis the level of this protein is higher than normal individuals (University of Utah). Now you are able to test the fetus for cystic fibrosis and have your baby be diagnosed before birth. Usually they test if the mother and father are both carriers, or if one parent is known to be a carrier (American Lung Association). Once an individual is diagnosed with cystic fibrosis how does one treat the disease? As of right now cystic fibrosis is not curable; however there are many things a person can do to prolong their life. The average life expectancy is about 37 years old. By doing the treatment that your doctor prescribes you able to live a longer and better quality of life. One thing a person with cystic fibrosis can do is chest physical therapy which is where the patient is repeatedly clapped on the back to loosen up mucus in the chest. You can use your hands to clap on the individual’s lungs or now a day they have manual percussors and the vest for new technology which also is used to loosen the mucus in a person’s chest. They also have to use Inhaled antibiotics to kill the bacteria that lead to lung infections. Another thing that they use is bronchodilators which are used to help keep the airways open. To help with proper digestion they use pancreatic enzyme replacement therapy. Gene therapy (a treatment now in clinical trials), is where the healthy CFTR gene is inserted into the lung cells of a patient to correct the defective gene. Approximately 2,500 babies are born with cystic fibrosis in the U.S. every year. This type of disease is a genetic disease that is inherited if you get both copies of the cystic fibrosis gene located on chromosome seven. It affects mainly the lungs and the digestive system making it difficult to breathe and absorb food. The most common way to diagnose an individual with cystic fibrosis is by doing a sweat test. It can be extremely serious and life threatening if you are not compliant with medications that doctors prescribes to you. A person with cystic fibrosis is required to take medications some are required to take more depending on the severity of the disease. There are usually lots of hospitalizations involved. It is common for a person with cystic fibrosis to develop cystic fibrosis diabetes. There are over 1800 mutations some milder and others are more serve. At this point of time there is no cure for cystic fibrosis however there are many medical advancements which make it where individuals living with cystic fibrosis can live a longer healthier and have a better quality of life. With people becoming more aware of what cystic fibrosis is and the research that is happening soon we can have CF (cystic fibrosis) stand for cure found.
Posted on: Sun, 04 Jan 2015 01:07:41 +0000
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