Cystic Fibrosis and Its Characteristics
Introduction
Among the various diseases that threaten the population of the Earth, cystic fibrosis is one of the conditions that have become a matter of increased interest for clinicians and researchers across the globe. This genetic disorder is characterized by its vast effect on the systems of the patients that are caused by a series of innate mutations within the cells. Cystic fibrosis impacts the functioning of the person’s lungs, kidneys, liver, pancreas, and intestine, causing an array of adverse effects. At the same time, the highest risks of this condition are associated with life-threatening respiratory conditions. With the development of genetic research and the increasing to cystic fibrosis, significant progress has been made in regards to the relevant knowledge of this condition. Recent advancements have improved the quality of life for people with this this disease, as compared to the previous stage of research. However, further studies are required to instill long-term improvements in the field of cystic fibrosis treatment. This paper addresses the characteristics of the condition, along with the current state of research.
Disease History and Characteristics
Today, cystic fibrosis continues to threaten the lives of thousands of people across the globe due to its genetic origins and treatment difficulties. According to the Cystic Fibrosis Foundation (n.d.), this condition can be described as “a progressive, genetic disease that causes long-lasting lung infections and limits the ability to breathe over time” (para. 1). The disease originates from mutations in transmembrane conductance regulator gene, which causes complications in terms of external secretion. As a result, the corresponding protein no longer functions properly, which causes complications across the systems of the body due to its inability to move chloride to the surface of the cell and attract water. The mucus secreted by the body thickens, clogging its paths and creating favorable environments for infections. This genetic condition is inherited in an autosomal recessive way, which is the primary barrier to its prevention (De Boeck, 2020). Cystic fibrosis is found across the globe, with over 70,000 confirmed cases worldwide (Cystic Fibrosis Foundation, n.d.). While it affects people of all ethnic backgrounds, the incidence rate of the condition is higher among Nordic people, with lower rates in Asia and Africa.
Effect of the Disease
As the disease is inherited, its development progresses throughout all stages of an individual’s growth. The area of cystic fibrosis’ effect encompasses the entire body, but its symptoms are mostly prevalent in lungs and skin. With the mucus becoming thicker, its evacuation from the airways is impeded, forming clogs that trap bacteria and viruses inside the lungs. Consequently, the main symptoms of the condition are associated with breathing difficulties and coughing. The presence of cystic fibrosis equally affects a child’s growth, the rate of which is rendered behind normal (Cystic Fibrosis Foundation, n.d.). Furthermore, the impact of the disease is multiplied when a respiratory infection is contracted, which is particularly serious during the ongoing COVID-19 pandemic (Colombo et al., 2020). This means that patients with cystic fibrosis form a specific risk group in the current environment. In the 20th century, the disease in question accounted for an increased incidence of child mortality, being considered a fatal condition for infants (Bell et al., 2020). Nevertheless, the recent developments in the field of cystic fibrosis research have significantly improved the outcomes for such patients.
Disease Prevention, Management, and Current State of Research
Considering the genetically innate nature of the disease’s origins, the prevention of cystic fibrosis does not appear feasible at the current stage. Therefore, the efforts of patients and clinicians aim at the symptom management that are to extend the life and enhance its quality (Cystic Fibrosis Foundation, n.d.). The exact measures taken to counteract the effect of cystic fibrosis vary from one case to another, as the severity of the symptoms is inconsistent between different patient. The pharmacological treatment mainly focuses on the use of inhaled medicines that help the body evacuate the mucus from clogged airways. It is delivered directly to the problematic point with the use of nebulizers according to an individual schedule. In addition, physical therapy is prescribed to help the patients retain energy and live a full life. These measures include airway clearance and personalized fitness plans.
Next, as cystic fibrosis has a strong impact on the functions of the pancreas, pancreatic enzyme supplements are prescribed by physicians, along with general multivitamins. Bell et al. (2020) refer to the novel tactics in combatting the symptoms of the disease. As per the current state of medical knowledge, CFTR modulators are designed specifically to address the defects of the corresponding protein. Through the use of modern advancements, the very source of the condition is attacked, holding the potential for long-term improvements in this regard.
Conclusion
Overall, cystic fibrosis is an inherited genetic condition that affects thousands of people worldwide. While it is more prevalent in Nordic communities, there are not ethnic or otherwise groups that are inherently immune to it. The disease attacks one of the proteins secreted by the body, which jeopardizes its ability to attract water and clogs the airways. As a result, severe breathing difficulties and aggravated respiratory conditions become the primary complications of cystic fibrosis. The origins of the disease make it impossible to be prevented at the current stage of research, but recent breakthroughs have created a positive ground for long-term improvements. Such research is indispensable, as it allows patients with cystic fibrosis to live longer, fuller lives, especially amid the COVID-19 pandemic.
References
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Colombo, C., Burgel, P. R., Gartner, S., van Koningsbruggen-Rietschel, S., Naehrlich, L., Sermet-Gaudelus, I., & Southern, K. W. (2020). Impact of COVID-19 on people with cystic fibrosis. The Lancet: Respiratory Medicine, 8(5), 35–36. Web.
Cystic Fibrosis Foundation. (n.d.). About cystic fibrosis. Web.
De Boeck, K. (2020). Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatrica: Nurturing the Child, 109(5), 893–899. Web.