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Cystic Fibrosis

by: Molly B, Sarah D, Cadence S, Sarah H


What is it?
Cystic Fibrosis is a disease that affects 70,000 people worldwide. It is an inherited disease that is passed on from parents to their children. However, parents can have Cystic Fibrosis (CF) as a recessive trait in their genes but do not have the disease. This disorder mostly affects its victims by causing the body to produce an excess of unusually thick and sticky mucus. This mucus can fill the lungs and lead to deadly lung infections. Not only does it affect the lungs and breathing of a person, CF also affects the person’s ability to digest food and absorb nutrients. Cystic Fibroses blocksCystic Fibrosis is a disease that affects 70,000 people worldwide. It is an inherited disease that is passed on from parents to their children. However, parents can have Cystic Fibrosis (CF) as a recessive trait in their genes but do not have the disease. This disorder mostly affects its victims by causing the body to produce an excess of unusually thick and sticky mucus. This mucus can fill the lungs and lead to deadly lung infections. Not only does it affect the lungs and breathing of a person, CF also affects the person’s ability to digest food and absorb nutrients. Cystic Fibroses blocks the pancreas and stops enzymes from breaking down and absorbing food. This leads the body to be weak and malnourished even though the person may be eating a balanced diet. Those with Cystic Fibroses suffer daily from the hindrances this unfortunate disease causes.

How it is Caused (specific mutation)
Cystic Fibrosis is an inherited, recessive disorder. The disorder is not apparent in a person unless both of their parents’ homologous chromosomes carry the trait. The parents of a child with cystic fibrosis each carry one copy of the mutated gene, but often times do not show signs or symptoms of the disease. The cystic fibrosis disorder results from a defective channel in the epithelial cell membrane that is in charge of chloride transport. A person who has two abnormal copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are at high risk for cystic fibrosis. The CFTR gene is in chromosome 7. It is a large gene that contains 180,000 base pairs and 1,480 amino acids. There are more than 1,500 mutations associated with the disease that have been detected. These mutations are clamto_testing_tests-by-name_cystic-fibrosis-carrier-testing_ReasonsForTesting-1.gifssified ac
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cording to the affect they have on the function of the CFTR protein. Class I mutations result in no proteins being made, class II proteins inhibit the protein from getting to its location on the cell membrane, and class III mutations cause problems with the function of the protein. Class IV mutations lessen the ability of the channel to transport chloride across the membrane, and class V mutations lessen the amount of functions to to produce the CFTR protein.


Symptoms
The main effect on people who have cystic fibrosis seems to be the body’s excessive production of mucus. In a person with cystic fibrosis, the body produces an abnormal type of mucus that is thick and sticky. This kind of mucus can block the trachea which can lead to severe breathing issues and can cause bacterial infections in Screen_shot_2011-03-07_at_7.50.14_PM.pngthe lungs. The long-term buildup of the mucus and lung infections can lead to permanent lung damage such as; the formation of scar tissue, and the growth of cysts. Cystic fibrosis can also lead to problems with the digestive system because the mucus interferes with the function of the pancreas. The pancreas is an organ that makes enzymes to help digest food, but in people with cystic fibrosis, the ducts of the pancreas are blocked with mucus. This blockage prevents the enzymes from getting to the intestines to help with digestion. Having cystic fibrosis in children can cause poor weight gain, loose stools, and respiratory infections. In adolescence with cystic fibrosis pancreatitis, diabetes, nasal polyps, and liver cirrhosis can occur. About 95 percent of males with cystic fibrosis are infertile due to abnormalities with the vas deferens. In women with cystic fibrosis, their fertility may be reduced.

Cystic Fibrosis Treatments
In 1989 when the Cystic Fibrosis Foundation and scientists found the gene that causes Cystic Fibrosis, tons of research began on how to treat the disease. One very important thing people with CF should do is contact a center, such as the Cystic Fibrosis Foundation, and make a plan to care for it. Since there is no real cure for this disease there are many different ways to make it unnoticeable. One way is to make a routine involving oral or IV antibiotics. Some mucus-lining drugs help reduce the stickiness and amount of mucus 103170.jpgin the chest. What might also help are Bronchodilators, which are a type of inhaler. This helps your airways to stay relaxed. Others way to help thin the amount of mucus are:
· Using the chest-clapper which imitates hands clapping over the ribs to loosen the mucus.
· Using an inflatable-vest which vibrates with a frequency that also loosens the mucus in the chest.
Some procedures that are used if surgery is needed are:
· Using a feeding tube to help give the body nutrients since Cystic Fibrosis interferes with the digestive system and makes it hard to absorb nutrients from foods.
· Having a lung-transplant which is used during a very bad lung infection occurring in Cystic Fibrosis.
· Having Bowel surgery which is used when there is blockage in the bowel. (At right: Inflatable vest)

Statistics
·Affects about 30,000 children and adults in U.S.
· Affects 70,000 people worldwide
· Mostly affects Caucasians
· Rarely affects those of African American or Asian descent
· 1,000 new cases are diagnosed each year
· 70% are diagnosed by age 2

The Foundationcff.jpg
The Cystic Fibrosis Foundation was established in 1955 and is a nonprofit organization funded by donor support. The mission of the foundation is to strive for a cure and ways to control Cystic Fibrosis along with improving the quality of life for those living with Cystic Fibrosis. The Cystic Fibrosis Foundation funds and accredits more than 115 Cystic Fibrosis centers, 50 affiliate programs is the United States’ leading organization devoted to Cystic Fibrosis, 95 adult care programs, and more than 75 chapters and branch offices nationwide. Because of the Cystic Fibrosis Foundation’s efforts and achievements in investments in comprehensive care and innovative research, the life span of those living with Cystic Fibrosis has expanded greatly. The Cystic Fibrosis Foundation has had a major role in the FDA approval and development of four therapies which are now a routine part of the treatments for those with Cystic Fibrosis. The Cystic Fibrosis Foundation is currently supporting more than 30 potential new treatments which are currently being developed. The Cystic Fibrosis Foundation also hosts a variety of fundraisers to support Cystic Fibrosis programs and has over 75 chapters and branch offices that it works with across the country. This foundation will continue to full forcibly fight Cystic Fibrosis with the goal of finding a cure.

Living with Cystic Fibrosis
Most of those affected by cystic fibrosis can lead active lives if they undergo regular visits to care centers and routine therapies. Cystic Fibrosis patients have high risks for lung infections and it’s crucial they put their health first in all situations. A high-calorie, high-fat diet is important for normal growth and development in kids as well as offering adults a way to maintain their health. Through the Cystic Fibrosis Foundation, patients will be given personalized diets. Most everyone w
ith Cystic Fibrosis needs to consume pancreatic enzyme supplements with meals and snacks. These help the body digest food so it can be absorbed and later used by the body.


Then and Now
In the 50s, kids with Cystic Fibrosis were dying before they reached elementary school. Now however, people suffering from Cystic Fibrosis are expected to live to their mid-thirties, sometimes even later. Now, 45% of the population that has CF is 18 or older. When the Cystic Fibrosis Foundation was founded in 1955, all they hoped to do was offer support for those living with CF. However, in 1989 when the Cystic Fibrosis Foundation (CFF) and scientists discovered the defective gene causing CF, more research began. Now, the FDA has approved four therapies for CF, and there are more and more being tested. In the past, there were very few care centers; now there is over 330 care centers world-wide. There is more hope for people living with Cystic Fibrosis now that there is more information and studies.