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Analytical Essay on Cystic Fibrosis: Physical and Social Effects, Symptoms and Treatments

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Cystic fibrosis is a single gene disorder which affects over 70 000 people worldwide (Cff, 2019). Cystic fibrosis patients have a malfunction in their exocrine system. This system is a network of glands throughout the body which secrete fluids including mucus, sweat and saliva. Cystic fibrosis causes large build-ups which can lead to clogged airways and digestive problems. The large build-up of thick, sticky mucus leaves patients prone to severe and reoccurring bacterial infections (refer to figure 1 for a visual representation of a clogged airway) (MedicineNet, 2018) and can prevent enzymes from leaving the pancreas to aid in digestion in the intestines (Livingston Jr, F. 2014). Patients possess an abnormality in a gene on chromosome 7 (Winikates, K. 2012). This gene, named the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), is responsible for regulating the electrolyte and water levels in cells. Dysfunctions in this gene can cause compromised regulation of both water and electrolyte levels by causing the cell to

Figure 1: A visual representation of a healthy airway (top) and an airway infected with cystic fibrosis (bottom) (Garna, C. 2019)

produce too much, too little, or no CFTR protein. Cystic fibrosis is an autosomal recessive disease due to the offspring needing to have received a faulty CFTR gene from both parents to develop cystic fibrosis (Cysticfibrosis, 2017). This is described in figure 2.

Figure 2: A visual representation of how an autosomal recessive disease works (Humanlongevity, 2019).

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Physical and Social Effects

Physical effects of having cystic fibrosis include: nasal polyps, sinusitis, shortness of breath and joint pain (Cysticfibrosis, 2019). Social effects include not being able to participate in physical activity due to a shortness of breath due to joint pain and having to be in isolation due to the risk of infection. Both these physical and social effects can worsen the quality of life for someone living with cystic fibrosis.

Symptoms and Treatments

Indicators of cystic fibrosis include: constant coughing, difficulty breathing, reoccurring lung infections, extremely salty sweat and malnourishment. In Australia, approximately 1 in every 2 500 babies born has cystic fibrosis. Most children nowadays are tested for cystic fibrosis at birth and are diagnosed before the age of two (Betterhealth, 2019). There is no known cure for cystic fibrosis. However, a range of treatments can alleviate the symptoms. These treatments include medications such as Dornase Alfa which aids in thinning out mucus in the lungs – making it easier to cough out; exercise; vitamin and mineral supplements; capsules containing digestive enzymes to help in digesting food; and in severe cases, lung transplants (nhs, 2018).

Gene Therapy

Gene therapy is an experimental technique which can possibly cure and treat hereditary diseases by replacing abnormal genes in patients’ cells with healthy genes (ScienceDaily, 2019). Although gene therapy is a relatively new technology, it is known to treat certain hereditary diseases such as cystic fibrosis by replacing the faulty CFTR gene with a functional version of itself. There are two different types of gene therapy for cystic fibrosis; integrating and non-integrating gene therapy. Integrating gene therapy works by replacing a mutated CFTR gene with a healthy one. This new gene permanently binds with the existing genome. A downside of this treatment however, is that the gene can integrate itself anywhere in the genome. This can have unwanted side effects such as an increased risk of cancer. Non-integrating gene therapy means that the introduced CFTR gene does not bind to the genome. The cell can still use the CFTR gene to make normal proteins and due to the gene not disrupting the genome, there is a lesser chance of developing cancer. A downside to this form of therapy is that it is temporary and further treatments will have to be administered every few months (, 2019). Gene therapy works by transporting a healthy copy of the CFTR gene to cells using a carrier called a vector. These vectors are usually viruses because they can transfer the new gene by infecting the cell (GHR, 2019). Gene therapy only corrects certain cells at a time, meaning that if the digestive cells were treated, then the lungs would still be dysfunctional. For the lungs, the gene therapy treatment can be delivered via inhalation to target the cells more precisely (DeWeerdt, S. 2016). There are over 1 700 ways in which the CFTR gene can mutate to cause cystic fibrosis. Gene therapy right now is the best way to combat all the mutations at once (Burik, A. 2018).

The Future of Gene Therapy

Currently, patients with cystic fibrosis must receive numerous gene therapy treatments over the course of their lives to live comfortably. The UK Cystic Fibrosis Gene Therapy Consortium has previously proven that sending the treatment to the cells via fat droplets is an effective way to treat cystic fibrosis. However, the Consortium is currently developing a new form of gene therapy which will only need one dose to cure the patient permanently (Burik, A. 2018). When cystic fibrosis was first identified in 1938, 80% of patients died within their first year of life. By 1990, people suffering with cystic fibrosis on average lived into to their late teens due to the success rate of full lung transplants (Childlifesociety, 2019). Using new scientific discoveries and new technology such as gene therapy and a better understanding of the disease, people around the world with cystic fibrosis today can now have a more comfortable and have an average life expectancy of 37 years.

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Analytical Essay on Cystic Fibrosis: Physical and Social Effects, Symptoms and Treatments. (2022, July 14). Edubirdie. Retrieved February 5, 2023, from
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