Cystic Fibrosis

By Anna Mattingly

What is Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that effects 1 in 4 children who's parents are both carriers of the disease. The disorder is passed on autosomally and is a recessive gene. To find out if you are a carrier, you can take a carrier test. People with this disorder have a defective gene on chromosome 7. The gene on chromosome 7 that carries Cystic Fibrosis is the cystic fibrosis trans-membrane conductance regulator, or CFTR. It is supposed to move salt in and out of the cells, but with CF it does not work correctly.
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Chromosone 7 with the Cystic Fibrosis Trans-membrane Conductance Regulator

"Cystic Fibrosis." Cystic Fibrosis. N.p., n.d. Web. 07 Dec. 2015. <http://learn.genetics.utah.edu/content/disorders/singlegene/cf/>.

Symptoms of Cystic Fibrosis

In all 50 states, a newborn screening is performed to see if babies have Cystic Fibrosis. Cystic fibrosis can be diagnosed in the first month of a babies life before symptoms appear. But, if someone was born before these screenings were done, these are some of the symptoms:

Respiratory symptoms-


  • A persistent cough that produces thick mucus
  • Wheezing
  • Breathlessness
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages or a stuffy nose
Digestive symptoms-



  • Foul-smelling, greasy stools
  • Poor weight gain and growth
  • Intestinal blockage, particularly in newborns
  • Severe constipation

Complications of Cystic Fibrosis

Because the CFTR doesn't work correctly, it causes mucus to become thick and sticky. This blocks ducts that allow enzymes to get to the pancreas so that the digestive system can function properly. A lot of people with Cystic fibrosis do not get enough nutrition that they need. CF also effects the lungs. Mucus coats the breathing tubes. CF makes the mucus in our airways to become thick and sticky. This causes the Cilia to not be able to sweep the germs up and out of the lungs. Because of this, people with Cystic Fibrosis get frequent infections that can lead to permanent lung damage. This disorder also effects the level of salt in the body. When people sweat, sodium and chloride(salt) comes out of their body to help them cool down. the salt is reabsorbed to maintain a healthy level of salt in the body. But, with Cystic Fibrosis, the salt is not reabsorbed. As a result, there are low salt levels in the body that can cause fatigue, weakness, fever, heatstroke, muscle cramps, stomach pain, vomiting, and dehydration. Cysic fibrosis can also sometimes Pneumothorax, which can collapse a lung and possibly be fatal. In some cases, there can be right sided heart failure, which can result in death as well.
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Complications of Cystic Fibrosis

"Organs Most Frequently Affected by Cystic Fibrosis." WebMD. WebMD, n.d. Web. 07 Dec. 2015. <http://www.webmd.com/lung/organs-most-frequently-affected-by-cystic-fibrosis>.

Treatment for Cystic Fibrosis

It is important for people with Cystic Fibrosis to eat healthy, stay hydrated, and exercise. Treatment for Cystic Fibrosis can include CFTR modulator therapy that is designed to correct the function of the CFTR gene. There is also inhaled medication that people can take to reach deep into the airways. Thick mucus can also be cleared form your lungs by coughing or huffing, and using airway clearance techniques to get rid of the mucus. In some cases though, people have to get lung transplants. The Cystic Fibrosis Foundation is currently doing research to come up with better treatments for Cystic Fibrosis. Although Cystic Fibrosis can be fatal, people with Cystic Fibrosis can live a long and almost normal life if they take good care of themselves and get good treatment.
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Therapy mask for Cystic Fibrosis

"THERAPEP Mask | Henrotech." THERAPEP Mask | Henrotech. N.p., n.d. Web. 07 Dec. 2015. <http://henrotech.be/en/accessory/therapep-mask>.

Interesting Facts

- Cystic Fibrosis is also known as Mucoviscidosis

- People with Cystic Fibrosis cannot be close to each other because it can risk cross-contamination or cross-infection.

Citations

"Cross-infection." - Cystic Fibrosis Trust. N.p., n.d. Web. 07 Dec. 2015. <http://www.cysticfibrosis.org.uk/about-cf/living-with-cystic-fibrosis/cross-infection>.


"How Cystic Fibrosis Affects the Sweat Glands-Topic Overview." WebMD. WebMD, n.d. Web. 07 Dec. 2015. <http://www.webmd.com/lung/tc/how-cystic-fibrosis-affects-the-sweat-glands-topic-overview>.


"How Cystic Fibrosis Affects Breathing and the Lungs-Topic Overview." WebMD. WebMD, n.d. Web. 07 Dec. 2015. <http://www.webmd.com/lung/tc/how-cystic-fibrosis-affects-breathing-and-the-lungs-topic-overview>.


"Cystic Fibrosis." Symptoms. N.p., n.d. Web. 07 Dec. 2015. <http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/symptoms/con-20013731>.