Drowning from the Inside: An In-Depth Look at Cystic Fibrosis

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Drowning from the Inside: An In-Depth Look at Cystic Fibrosis

Cystic Fibrosis is one of the most common and deadly diseases in North America today. As an incurable recessive genetic disorder, it may seem like a small chance for anyone to contract it, and it is on the “rare disease” list, but 1 in 2500 newborns in Canada are diagnosed with CF.[1] It is the most common fatal genetic disease in Canada.[2] Cystic Fibrosis is a deadly genetic disease, meaning you can’t contract it. You must have a defective gene from your mother and father. Cystic Fibrosis affects the lungs and digestive system. Although there is ongoing research being done, scientists still do not know everything about the disorder, but, the research so far has been crucial in the creation of different treatments for the various symptoms of the disease.[3] The Genetics of the disease are incredibly fascinating, but are still under heavy research to find a cure.

Cystic Fibrosis is a recessive disorder, caused by a defective gene, located on human chromosome 7, called the CFTR, or Cystic Fibrosis Transmemberance Conductance Regulator.[4] For someone to get CF, they must acquire a defective gene from both their mother and father. Both copies of the gene in each cell have mutations, meaning both parents have to be carriers of the defective gene to pass on the disease. If a mother and father are both carriers of the disease, there is a one in four chance that the offspring will have the disease.[5] Similarly, there is a one in two chance that the offspring will be carriers, and a one in four chance that they will not carry a defective gene. The protein produced by the CFTR gene normally transports chloride ions in and out of cells.[6] For patients with CF, this protein doesn’t work correctly. Mucus builds up outside of the cell, causing an inability for the protein to transport the ions. This results in too much mucus, as well as extremely salty sweat.[7] There are many different variations of the mutation, but they all create the same result. The most common mutation, ΔF508, is described as: “the mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508”.[8] This is one of many different types of mutations to the gene, all of which result in Cystic Fibrosis. Although medicine has become much more advanced through the past years, there is still information about the genes that is yet to be discovered. Despite all of the research scientists have done, many of the symptoms are still persistent and affect the patient drastically.

Cystic Fibrosis is known for having many extreme symptoms. One of the most common symptoms of CF is the tendency for patients to have more mucus than normal.[9] Because of the lack of efficient chloride ion transport, the cells can’t break up mucus. This causes lots of thick mucus to build up, usually in the lungs. Because of the lack of mucus breakdown, people with CF get frequent lung infections. This can pose a problem because of the inferior immune system as well. In addition to lung infections, people with CF get frequent sinus infections, because of the buildup of mucus.[10] These nasal infections can lead to the development of nasal polyps. These polyps are usually very big and bothersome, and some may even require surgery to remove.[11] Another symptom of CF is because of the defectiveness of some genes, men born with CF may be infertile, due to a lack of vas deferens.[12] Women with CF may also be infertile, due to mucus blocking some areas of the cervix.[13] Cystic Fibrosis heavily affects the reproductive system. There is some talk that the symptoms of CF are visible in carriers; however there is no evidence to support this claim. These symptoms are usually very persistent and bothersome. Luckily, there are many forms of treatment for the symptoms of CF.

Although there is no cure, the symptoms of Cystic Fibrosis can be treated in multiple ways. There are many CF specialists trained specifically for the treatment of CF patients. Most treatments are symptom based, so the form varies. For example, because of the build-up of mucus in the lungs, compression vests are a very common form of treatment.[14] The vests work by inflating and deflating rapidly, breaking up the thick mucus in the lungs, making it easier to breathe for the patients. The vest is usually used twice a day, once in the morning and once in the evening, for about 45 minutes each time. In addition to the vest, oral medication is also taken. Some of the medication, like antibiotics to treat and prevent lung infections, Mucus-thinning drugs to help you cough up the mucus, which improves lung function, and Bronchodilators to help keep your airways open by relaxing the muscles around your bronchial tubes, are all taken once or twice a day.[15] Some of the medication is taken with every meal as well, for example, Oral pancreatic enzymes are taken to help your digestive tract absorb nutrients.[16] These treatments work in conjunction to improve many of the symptoms of Cystic Fibrosis. Most of the treatment is for increasing airway clearance, because it is one of the most irritating and deadly symptoms of the disease.[17] Despite this, the other symptoms are also troublesome, and attention is put on them as well. For example, many of the enzymes and medications taken by CF patients are for aiding in digestion and helping gain weight.[18] The treatment of CF has advanced leaps and bounds in the past few decades, and now the average lifespan of a Cystic Fibrosis patient has climbed from early infancy in the 1940s to late 30s in 2015.[19]

Cystic Fibrosis is one of the most deadly diseases in North America today. One in 2500 newborns are diagnosed with it, and one hundred percent of them will not survive. Caused by a defective gene in human chromosome 7, CF comes with many deadly symptoms. Mucus, infections, and weight loss are all common symptoms that patients with Cystic Fibrosis suffer from.[20] The treatment of CF has advanced in recent years, and the lifespan of CF patients has increased drastically. Treatments like compression vests, medication, and therapy are all factors that improve the quality of life for Cystic Fibrosis patients.[21] Cystic Fibrosis is a disease that hits home for many residents of North America, as it is the most common fatal genetic disease in Canada. The genetics and symptoms of the disease have resulted in advancements of treatments; however there is still no cure. Hopefully, with the support of the population and the work of the researchers, a cure can be found.


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[1] http://www.cysticfibrosis.ca/wp-content/uploads/2013/10/The-Facts-About-Cystic-Fibrosis.pdf

[2] http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/treatment/con-20013731

[3] http://www.thevest.com/diseases-conditions/cystic-fibrosis.asp

[4] http://learn.genetics.utah.edu/content/disorders/singlegene/cf/

[5] http://www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis/?lang=en

[6] http://ghr.nlm.nih.gov/condition/cystic-fibrosis

[7] http://learn.genetics.utah.edu/content/disorders/singlegene/cf/

[8] http://www.rightdiagnosis.com/artic/cystic_fibrosis_research_directions_niddk.htm

[9] http://www.nhlbi.nih.gov/health/health-topics/topics/cf/signs

[10] http://www.nhlbi.nih.gov/health/health-topics/topics/cf/treatment

[11] http://learn.genetics.utah.edu/content/disorders/singlegene/cf/

[12] http://www.nchpeg.org/nutrition/index.php?option=com_content&view=article&id=462&Itemid=564&limitstar

[13] http://www.nchpeg.org/nutrition/index.php?option=com_content&view=article&id=462&Itemid=564&limitstar

[14] http://www.thevest.com/diseases-conditions/cystic-fibrosis.asp

[15] http://www.nationaljewish.org/healthinfo/conditions/cysticfibrosis/life-expectancy/

[16] http://emedicine.medscape.com/article/1001602-treatment

[17] http://www.nhlbi.nih.gov/health/health-topics/topics/cf/treatment

[18] http://www.cysticfibrosis.ca/wp-content/uploads/2013/10/The-Facts-About-Cystic-Fibrosis.pdf

[19] http://www.thevest.com/diseases-conditions/cystic-fibrosis.asp


[21] http://www.thevest.com/diseases-conditions/cystic-fibrosis.asp