What is Cystic Fibrosis

Cystic Fibrosis is a progressive, genetic disorder where the lungs build up too much mucus inside.

What is cystic fibrosis?

When one first hears the word “Cystic Fibrosis”, it can be quite terrifying. The scientific name, the Latin sounding words – anything in a different foreign language can indeed sound intimidating. But what if Cystic Fibrosis is not really the main cause of death but a risk factor-disease? So that begs the question, what is this condition? And how does it make things worse?

What is Cystic Fibrosis?

Cystic Fibrosis is a progressive, genetic disorder where the lungs build up too much mucus inside. The mucus build-up is most commonly found in the lungs. However, this condition can also cause mucus to build up inside the pancreas and organs that have mucus sacs. When a person is afflicted with Cystic Fibrosis, they often find themselves dealing with persistent respiratory diseases more often than others.

But how does Cystic Fibrosis do that? Normally, the body produces mucus to catch germs and dirt that invade from the outside. Then, our body expels the germs through either sneezing, blowing off the nose,  or coughing out the phlegm (germ infected mucus). However, the problem with those who have Cystic Fibrosis has an unlimited amount of mucus which is also extra sticky. It being extra sticky and extremely viscous makes it hard for the human body to expel. Thus, this would lead to the body being infected for longer periods of time. Hence, the appearance of the respiratory disease being more “persistent”.

How does one get Cystic Fibrosis?

Cystic Fibrosis is not just a disease you get from being sneezed on. Nor, is it a disease that one gets from being coughed on. Cystic Fibrosis is a mutation within one’s genes which can be passed on. Often times, it’s the males who get the Cystic Fibrosis because of the Y chromosome. The Y Chromosome being smaller than the X-chromosome in females makes it harder for males to be genetic carriers.

Cystic Fibrosis is a disease gained through “mutation”. This mutation happens in the deepest parts of your cells where your DNA is still being made, translated, and finalized. However, during the translation, there occurs a mutation or a variance in the gene. For those afflicted with Cystic Fibrosis, their DNA suffers the Frame Deletion mutation in their DNA.

How bad can this be? In Cystic Fibrosis, the removal of a certain amino acid can spell a life filled with sticky mucus. The Cystic Fibrosis mutation is caused by the deletion of Phenylalanine-508 or commonly seen as Delta-F508. When the deletion occurs, it alters the entire DNA chain altogether which then causes the manifestation of Cystic Fibrosis. And from there, the person with that mutation would have to spend the majority of the time fighting persistent respiratory diseases and other mucus related problems.

Symptoms of Cystic Fibrosis

Cystic Fibrosis doesn’t pop a rash like skin diseases nor does it show. The body has to undergo a biochemical process for the Cystic Fibrosis to be detected. Some symptoms include:

  • Infertility (Males only)
  • Stuffy noses
  • Thick mucus
  • Constant coughing
  • Constant wheezing and sneezing
  • Foul smelling stool
  • Severe constipation
  • Intestinal Blockage

What are the implications of having Cystic Fibrosis?

Infertility is one of the few implications. Both men and women are affected when afflicted with Cystic Fibrosis. For men with Cystic Fibrosis, they lack a Vas Deferens which connects the Testes to the Penis. Because of this, it can either cause low sperm count, abnormally shaped sperm or simply “dead sperm”. Despite this, they can still impregnate a woman through clinically assisted means. Women, on the other hand, have lack of menstruation and have thickened cervical mucus.

However, the main problem that Cystic Fibrosis causes is malnutrition. The lack of nutrition in the body prevents women from being able to have kids, to function, and even for men. Because what protects and allows the body to absorb the nutrients and not the germs is the thin mucus lining in the intestines. If the mucus is too thick, the body will be unable to absorb the minerals and vitamins that come from the food.

And when there’s a lack of nutrition, there’s also the immune system suffering from the lack of energy. And when there’s no energy, the immune system cannot protect the body from incoming diseases. Since most diseases are airborne, people who have Cystic Fibrosis find themselves on the short end of the stick when fighting respiratory diseases. The thick mucus in the nose and the respiratory system makes it hard to take out the germs. There’s also constant wheezing and coughing to remove the phlegm. But it will always come back, why? The mucus, being so sticky, will serve as a moist environment for germs. That being said, germs will proliferate before becoming an intense infection.

And with these infections, the respiratory system starts to take more damage. Because of the thick mucus build up, the respiratory system is constantly trying to remove it. When it tries to remove it, it damages the respiratory tissue. This can lead to the growth of nasal polyps since the nose tissue is always inflamed. Other times, the damage can cause those afflicted with Cystic Fibrosis to cough up blood. However, the most common one is having shortness of breath where the individual has difficulty transporting air because of the damaged airways.

Is there a cure?

Unfortunately, there are no proven cures yet. But science has found a way to prolong the life of those afflicted with Cystic Fibrosis. Some have explored the route of gene therapy in hopes of isolating the said Cystic Fibrosis gene. Others have done lung transplant to at least prevent the mucus build up in the lungs.

However, there is management such as chest physiotherapy. By rapidly massaging or pounding the back, the mucus would be forced to dislodge. Another is to provide antibiotics to at least arrest the respiratory infections brought in by the Cystic Fibrosis.

Another pathway is the use of mucus-targeted medicines such as Dornase Alfa or Hypertonic Saline which liquefies the mucus. When liquefied, it’ll be easier to remove and provide relief for those afflicted with Cystic Fibrosis.

Source:

  • Riordan, J. R., Rommens, J. M., Kerem, B. S., Alon, N., Rozmahel, R., Grzelczak, Z., … & Chou, J. L. (1989). Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science, 245(4922), 1066-1073.
  • Kerem, B. S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., … & Tsui, L. C. (1989). Identification of the cystic fibrosis gene: genetic analysis. Science, 245(4922), 1073-1080.
  • Rommens, J. M., Iannuzzi, M. C., Kerem, B. S., Drumm, M. L., Melmer, G., Dean, M., … & Hidaka, N. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245(4922), 1059-1065.
  • Oliver, A., Cantón, R., Campo, P., Baquero, F., & Blázquez, J. (2000). High frequency of hypermutable Pseudomonas aeruginosa in cystic fibrosis lung infection. Science, 288(5469), 1251-1253.
  • Debray, D., Kelly, D., Houwen, R., Strandvik, B., & Colombo, C. (2011). Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. Journal of Cystic Fibrosis, 10, S29-S36.
  • Gibson, R. L., Burns, J. L., & Ramsey, B. W. (2003). Pathophysiology and management of pulmonary infections in cystic fibrosis. American journal of respiratory and critical care medicine, 168(8), 918-951.
  • Stallings, V. A., Stark, L. J., Robinson, K. A., Feranchak, A. P., Quinton, H., on Growth, C. P. G., … & Ad Hoc Working Group. (2008). Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: results of a systematic review. Journal of the American Dietetic Association, 108(5), 832-839.

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