Cystic Fibrosis

Have you seen 5 Five Feet Apart and are now wondering what illness Stella and Will had? This essay will explore the inheritance, diagnosis, complications and treatment options for patients with Cystic Fibrosis.

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Essay

“Cystic fibrosis is a degenerative disease caused by the CFTR gene affecting the exocrine glands.”

This essay will delve into the causes, symptoms, diagnosis and treatments of an inherited disorder named Cystic Fibrosis. Cystic Fibrosis affects more than 70,000 people worldwide by causing severe damage to the lungs, digestive system and other organs. This progressive disease affects the exocrine glands which are responsible for producing mucus, sweat, tears, and digestive juice. Normally these would be thin and slippery however in someone who has CF they become tricky and thick so that they block passageways and tubes to organs such as the lungs and pancreas Mayo Clinic).

Cystic Fibrosis is a genetic condition originating from the CFTR gene. It is a recessive gene as a newborn must have one gene from each parent to have the disease. Parents or family members may be a carrier of the gene but could not have the condition itself. In fact, there are ¼ chances to have CF if both parents are carriers, and ½ if one parent has cystic fibrosis and the other is a carrier (Nhs.uk). Everyone contains a mucus layer which coats the airways. This layer of mucus takes in the bacteria and germs inhaled and small organelles called cilia sweep them out of the airway. On the membrane of the airway cells are CFTR ion channels which allow chloride ions to exit the cell into the mucus layer. However, as the gene is mutated in a patient with cystic fibrosis, this ion channel is defective, therefore meaning chloride ions are not able to travel out the membrane anymore. Since the concentration of chloride ions is higher inside the cell, water will travel through osmosis into the cell. This causes the mucus layer to dry out and become thick. 

The symptoms of cystic fibrosis range from patient to patient however they can mostly be separated into two categories; respiratory and digestive. Respiratory symptoms happen due to the thick mucus which congest the airways to the lungs. Some of these respiratory symptoms include wheezing, lung infections, cough that produces sputum, stuffy nose because of an inflamed nasal passageway, and sinusitis. Sinusitis is an inflammation of the tissue that lines the sinuses which are four spaces in the face. The second set of symptoms is the digestive symptoms which happen because of the thick mucus which blocks the tubes that carry digestive enzymes from the pancreas to the small intestine, hence meaning the intestine is no longer able to absorb nutrients. This leads to the inability to gain enough weight, abnormal growth, and fetid, greasy feces. It can also cause Meconium Ileus which is a bowel obstruction where the meconium (the first stool of a new-born) is thicker and stickier which creates blockage in the bowel (Children's Hospital Of Philadelphia). A last digestive symptom is severe constipation, subsequently leading to rectal prolapse which is when the rectum bulges out of the anus.

In addition to these symptoms there are also conditions that CF patients are more likely to develop. For instance, they are more likely to get type 1 diabetes because the mucus scars the pancreas which means it is not able to make enough insulin. 98% of males with cystic fibrosis also don't have vas deferens which is two tubes that normally bring the sperm into the semen so without it this means they are infertile (Cystic Fibrosis Foundation). Other conditions include, osteoporosis where the bones are weak and brittle, pneumothorax where air goes into the space that separates lungs from the chest wall sometimes causing a lung to collapse, and bronchiectasis where the bronchial tubes in the lungs are damaged and widened (Nhs.uk).

Most people are diagnosed with cystic fibrosis when they are still young or even newborn by virtue of the heel prick test. This test consists of placing the blood on a Guthrie card which then suggests if the new brown has CF. Another common test is the sweat test which determines the amount of chloride in the patient's sweat. This is done because people with cystic fibrosis typically have added salt in their sweat. Genetic testing uses a blood sample from the CFTR gene that causes cystic fibrosis. In addition to this, a chest or sinus x-ray can be used not to test for cystic fibrosis but it is an additional test to confirm if they have CF (Cleveland Clinic).

Unfortunately, there are no cures to cystic fibrosis but there are different treatment options which can increase the life expectancy of someone with cystic fibrosis to mid-40s if they are diagnosed young. Medication is one of the main treatment options. Antibiotics and anti-inflammatory drugs are used to treat lung infections which make the bronchial tubes swollen. For example, Tezacaftor is a good medication to improve the CFTR activity in the lung to help the person breath more easily. Bronchodilators are medications that open the airways and relax the muscles in the lungs. It is given by an inhaler like mucus thinners which also help thin and loosen the mucus out of the lungs. A last medication used for cystic fibrosis is CFTR modulators that helps the faulty CFTR proteins to improve lung function and to gain weight as well (Webmd).

A second treatment option is digestive treatments. These treatments help with the digestive system for example digestive enzymes ameliorate the body’s ability to absorb nutrients. Vitamins are also sometimes prescribed as people with CF don't have enough vitamins A, D, E and K. Moreover, laxatives and intense laxative treatments can be done to help with the bowel obstruction and severe constipation. For this enema, polyethylene glycol lavage, oral laxatives and other medications and treatments are combined to have a greater impact (Nyulangone).

Some people with cystic fibrosis like to do chest physical therapy. This therapy uses techniques such as the airway clearance techniques to facilitate breathing and reduce lung infections. Exercises like clapping or pounding theft help loosen the mucus up. Although this therapy does not eliminate symptoms or create large long term impacts, it does help alleviate some systems and reduce some of the mucus in the body.

Surgeries are only done if absolutely necessary but they are definitely an option to treat cystic fibrosis. If a patient is experiencing a lot of infections and symptoms in their sinus, sinus surgery can be done. Either the nasal passageways can be completely removed, or an endoscopy and lavage can be done which is a procedure where the mucus is cleansed from the airways. Some patients may need a feeding tube if they are not getting enough nutrients and if they are malnourished. Furthermore, bowel surgery is an option for when the tubes in the bowel are blocked by mucus. For this surgery, a catheter is inserted in the bowel to flush out the intestines with saline or laxative. Another option for bowel surgery is that part of the intestine might need to be removed and then reconnected once it is healthy (Nyulangone). A last surgery for cystic fibrosis which is only used in extreme circumstances is a lung transplant. If the lungs are infected due to CF then they might need to be replaced by healthy, unaffected lungs.

In conclusion, cystic fibrosis is a degenerative disease caused by the CFTR gene affecting the exocrine glands. The thick and sticky mucus causes blockages in the tubes and organs leading to a wide variety of symptoms. Most people are diagnosed with cystic fibrosis as new born with the heel prick test and then treatments of medications, digestive treatments, chest physical therapy and surgery are used to prolong the life expectancy of the patients.

Bibliography

1. Brennan, Dan. "What’S The Treatment For Cystic Fibrosis?". Webmd, 2022, https://www.webmd.com/children/what-is-treatment-for-cystic-fibrosis.

2. "Cystic Fibrosis". Cleveland Clinic, 2021, https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis.

3. "Cystic Fibrosis". Nhs.Uk, 2021, https://www.nhs.uk/conditions/cystic-fibrosis/.

4. "Cystic Fibrosis - Symptoms And Causes". Mayo Clinic, 2022, https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.

5. "Fertility In Men With CF". Cystic Fibrosis Foundation, 2022, https://www.cff.org/fertility-men-cf.

6. "Meconium Ileus | Children's Hospital Of Philadelphia". Chop.Edu, 2022, https://www.chop.edu/conditions-diseases/meconium-ileus.

7. "Treatment Of Intestinal Blockages In Cystic Fibrosis In Children". Nyulangone.Org, 2022, https://nyulangone.org/conditions/cystic-fibrosis-in-children/treatments/treatment-of-intestinal-blockages-in-cystic-fibrosis-in-children.