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Analytical Essay on Cystic Fibrosis: History, Symptoms and Causes

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The genetic disorder that I choose was Cystic Fibrosis, also known as CF. CF is caused by a change and/or mutation in the cystic fibrosis transmembrane conductance regulator also known as CFTR gene. People who have CF inherit two copies of the CF gene, one gene from each parent. The CFTR gene controls the flow of salt and fluids in and out of your cells. Since the CFTR gene controls if it does not as it was meant to, then sticky mucus builds up in the body. Cystic Fibrosis affects mainly the lungs and the digestive system. People who have CF are prone to contracting lung infections. There is no cure for Cystic Fibrosis at the current time.


The earliest record of Cystic Fibrosis is in 1983 from an American pathologist Dr. Dorothy Andersen who provided the first description of the disorder in the medical literature. Dr. Dorothy Andersen called the disease “cystic fibrosis of the pancreas” based on the children who died of malnutrition. In 1948, Dr. Paul di Sant’ Agnese found that the sweat of children who had CF abnormally high salt concentration. In 1955, The Cystic Fibrosis Foundation was formed by a group of concerned parents who were determined to save the lives of their children. The predicted age of survival changed from 10 in 1962, 16 in 1970, and in 1980 the age was 18. In 1963, the US CF Foundation wrote a guide for diagnosing cystic fibrosis. The medical centers devoted to CF went from two to more than 100 through 1961-1978. In 1989, a team of scientists discovered the defective cystic fibrosis transmembrane conductance regulator (CFTR) and open the door to understanding the disease at the most basic level, and the predicted age of survival changed to 19. In 1993 and 1997, the FDA approved of Pulmozyme and TOBI two different antibiotics designed for CF. These helped reduce hospital stays and improve lung function. In 2000, the median age improved to 32 and in 2004, studies and the University of North Carolina found that hypertonic saline helps clear CF mucus. One of the first oral drugs to work on a cellar level (VX-770) was found in 2006. The first march was held in 2007 to educate elected officials about the need for continued funding for NIH, the FDA, and other drug development and research programs. In 2008 phase two studies of the oral compound VX-770 showed an increase in lung function and improvements in overall health and well-being, proving that it is possible to treat the root cause of CF. The foundation raised $175 million through the milestones campaign in 2010. The money that was raised was used to fund research projects, buy better equipment, etc. Throughout 2011- 2013, phase 3 clinical trials of ivacaftor (VX-770) show profound results and the foundation a new drug application was submitted under the trade name Kalydeco, the FDA approved of ivacaftor/Kalydeco for a small group of people 6 and older, and two large international phase 3 trails of ivacaftor. In 2016, the FDA approved the ivacaftor for children with CF ages 6 to 11 who have two copies of F508del mutation (one of the many types of CF mutations). This made nearly 11,000 in the US eligible for the treatment. In 2018 the foundation maintains a robust pipeline of potential therapies that target the disease at every angle.

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The most common symptoms of Cystic Fibrosis are very salty-tasting skin, persistent coughing at times without phlegm, wheezing, coughing blood, frequent lung infections such as pneumonia or bronchitis, greasy, bulky stools or difficulty with bowel movements, infertility especially in males, and poor weight gain in spite of excessive appetite. More extreme symptoms are pancreatitis, or inflammation of the pancreas, diabetes, nasal polyps or small fleshy growths found in the nose, jaundice/ yellow skin, and Pneumothorax which collects air in the space that separates the lungs from the chest wall. This condition can cause chest pain and breathlessness. If you experience most of the common symptoms and at least two of the more extreme symptoms, please see your local doctor to see if you or your child have Cystic Fibrosis.


Some causes of cystic fibrosis are family history and race. Since Cystic Fibrosis is a genetic disorder you are born with CF. People with CF get CF from their parents. To get it you must have two copies of the defective CF gene. One copy from each parent, so both parents must have at least one copy of the defective gene. One of the causes of Cystic Fibrosis is family history because it is an inherited disorder, so it runs in families. Race is another type pf cause even though it occurs in all races, it is most common in white people of Northern European ancestry. Cystic Fibrosis is one of the most common genetic disorders and 1 in 2,5000-3,500 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. Also, CF cannot transmitted.


There are currently many treatments to help slow down the process CF. One treatment is antibiotics to treat and prevent lung infections, or anti-inflammatory medications to help with swelling in the airways of your lungs. They include ibuprofen and corticosteroids.

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