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Cystic Fibrosis

Alaya Tyson 10/6/16


Background/Introductions
Cystic Fibrosis, also known as CF, is a genetic disease that causes frequent buildup of
mucus in the lungs and pancreas. Because of that, lung infections happen quite often
because the mucus has a lot of bacteria that continues to multiply. There are more
than 70,000 people who are diagnosed with CF worldwide, and the median life
expectancy of living with cystic fibrosis is 40 years old. Most people are diagnosed at a
young age, around the age of 2. However, the older you get before you are diagnosed,
the worse it is.
Causes
A defect in the CFTR (Cystic Fibrosis Transmembrane Conductance) gene is what
causes cystic fibrosis. The CFTR is what controls the channel that produces the mucus,
sweat, saliva, etc. A defect in this gene causes everything to go unbalanced, and it
causes buildup.
Symptoms
Symptoms of Cystic Fibrosis include:

Weight loss/failure to gain weight


Shortness of breath/wheezing
Pain in the abdomen and chest area
Frequent coughing
Frequent lung infections
Nail deformity

-Some people dont notice symptoms until teenage years or later in their adult life. In
this case, it usually means that they have a mild case of CF but it still continues to get
worse as time goes on.
How do you get it?
Since cystic fibrosis is a genetic disease, you get it from your parents. One parent may
have one part of the gene, and the other parent may have another. When they have a
kid, the two genes put together can either cause cystic fibrosis, or it will allow the child
to carry the gene and pass it on to their children in the future. If both parents carry the
CF gene, there is a 25% chance that their child will be diagnosed, and a 50% chance
that the child will carry the gene, but wont actually have the disease.
PCR diagnosis
PCR helps to diagnose Cystic Fibrosis by identifying the defective CFTR gene in the
blood. PCR primers have been developed to identify the mutant gene, and when
tested, the gene is able to be discovered.
Treatment
Although there is no cure for cystic fibrosis, the treatments used today have helped so
many lives of people who are living with this disease. The treatments used:

Help to prevent and/or control the lung infections


Mucus thinners inhaled to loosen/remove the mucus from the lungs
Antibiotics to fight infections in the lungs
Exercise/chest physical therapy for the lungs
Interesting Facts
- Although Cystic Fibrosis is not contagious to healthy people, two or more people
that have cystic fibrosis are advised to not be within 6 feet of each other because
they have dangerous infectious bacteria in the mucus of their lungs, and when
they cross, their immune systems arent strong enough to fight the bacteria off.
- People with CF have salty skin. Usually when sweating, the salt and water
produced is reabsorbed. However, people with CF cant absorb the sodium
chloride released, so if you were to kiss a person with CF, they would taste a little
more salty than usual. Their sweat can be up to 5x more saltier than a healthy
persons sweat.
References
Molecular Markers. (n.d.). Retrieved October 05, 2016, from
https://www.ndsu.edu/pubweb/~mcclean/plsc431/markers/marker2.htm

(n.d.). Cystic Fibrosis Foundation. Retrieved October 05, 2016, from https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/

Staff, B. M. (n.d.). Cystic fibrosis. Retrieved October 05, 2016, from


http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/definition/con-20013731

Cystic Fibrosis: Symptoms, Diagnosis, and Treatment. (n.d.). Retrieved October 05, 2016, from
http://www.webmd.com/lung/what-is-cystic-fibrosis#2-3

How Is Cystic Fibrosis Treated? - UNM Hospitals. (n.d.). Retrieved October 05, 2016, from
http://hospitals.unm.edu/cf/cf_treatment.shtml

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