Cystic Fibrosis
Cystic Fibrosis is the most commonly inherited disease. 30,000 Americans are affected by the disease. About 1 in 31 people is a carrier, and if two carriers have children, they have a 1 in 4 chance of a child developing this disease. It affects mostly one's glands, lungs, and digestive system.
What causes Cystic Fibrosis?
Cystic Fibrosis and the resulting symptoms are caused by a mutation on chromosome 7, one of the autosomes. This chromosome contains the coding for the construction of a transmembrane protein called Cystic Fibrosis transmembrane conductance regulator, CFTR for short. This protein regulates and allows the passage of chloride ions both in and out of the cell. People suffering from Cystic Fibrosis are either missing this protein entirely, or it just does not function because it will not open. In either case, the chloride ions are not able to enter or leave the cell. When this happens, the person will sweat out all of their sodium and chloride ions, important nutrients, which the body will not be able to reabsorb because of the lack of CFTR. Although in a normal person, sodium ions would be absorbed by a separate protein, the lack of CFTR causes this protein to not reabsorb the sodium either. With both of these nutrients missing, the body is suffering from a lack of salt which can have many consequences such as abnormal heart rhythyms. It also has side effects for many other organs. When there is no CFTR, the chloride ions will not be secreted from the pancreas and as such, water will not follow as it would in a regular person because of osmosis. The water is not present to wash away the digestive enzymes and so these enzymes begin to break down the tissue of the pancreas itself. Also, because of the lack of water to wash it away, the pancreatic duct becomes clogged with mucus and as a result of these two effects on the pancreas, inflammation will occur. Other than the pancreas and the heart, the lungs receive a fair amount of damage. Although it is not clear why, mucus builds up in the lungs creating a desirable home for bacteria.
The Effects of Cystic Fibrosis
Other than giving the body fewer nutrients than an average person, the disease can also cause scar tissue build up and cysts in the lungs because of the harmful mucus. Frequent and severe chest infections and swelling occur and are caused by bacteria from mucus getting stuck in airways. It complicates breathing and causes an abnormal amount of coughing and wheezing. A child with Cystic Fibrosis may be smaller than other children around them because of the lack of nutrients they are absorbing compared to others. Other problems that can occur because of Cystic Fibrosis are liver failure, diabetes, and infertility. Sometimes there will be respiratory failure, and an affected person will be in need of a lung trasplant. It affects every person differently though, and some go on to have perfect health other than this disease, while others will struggle more often.
Symptoms and Treatments
Some symptoms to look out for when thinking of this disease are: frequent fatigue, shortness of breath, upset stomach, abdominal pain, and diarrhea. Newborn babies are always screened for Cystic Fibrosis, but prenatal testing is also available. So far there is no cure of prevention of the disease, but a lot of research is being done still. To prove that we are making advances, in 1955 the average life expectancy for an affected person was not long enough to attend elementary school, while now the life expectancy is from late 30s to early 40s. The medical advances have been huge. Even though there is no cure, there are still treatments available such as: eating high energy foods and vitamin and mineral supplements to gain the needed nutrients, regular excercise, physiotherapy and breathing excercises daily to prevent mucus bulid up, and antibiotics to control lung infection and inflammation.
for more information, visit these
Informative Websites
http://www.cff.org/
http://cfcenter.stanford.edu/
http://www.livforacure.org/
By Robbie Hugin and Rebecca Youngdahl
to Human Genetic Disease Project
Works Cited
http://www.ygyh.org/cf/whatisit.htm
http://www.bbc.co.uk/health/conditions/cystic1.shtml
http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6233
http://www.cff.org/LivingWithCF/AtSchool/TeachersGuide/#What_is_cystic_fibrosis
I have neither given nor received any unauthorized aid on this assignment.
Rebecca Youngdahl
Robbie Hugin
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