Cystic Fibrosis: The Physiological Impacts on the Body

Essay Instructions:

instructionsPlease submit the final version of your essay here. Below are the requirements on the essay: A Microsoft WORD (or alternative; no PDFs) document, with a minimum of 3 and a maximum of 4, 12 pt. font, 1 inch margins, double-spaced pages, and 3 to 10 published references. The name of the student and a specific essay title (not just the word “essay”) must be present on the first page and all these must not exceed 5 lines. Do not include a title page or an abstract in the essay. Use published references to describe the disease you have chosen to focus on by explaining the symptoms, the cause(s), and any treatments available. The part should be about ¾ of the essay. End the essay by either analyzing the pros and cons of the available treatments or proposing (additional) treatment strategies to fight against this disease and justifying your proposal. This part should be about ¼ of the essay. Use of subheadings throughout the paper to help organize and communicate the logical flow of the essay is highly encouraged. Figures, tables, and references are not included in the page limit. If you use them, make sure they are readable and discussed in the text. My Outline:I. Introduction A. Definition of cystic fibrosis (CF) B. Overview of how CF affects the respiratory and digestive systems II. Genetic Cause of CF A. Explanation of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations B. Impact of gene mutations on chloride ion transport and mucus production in the lungs and pancreas III. Physiological Impacts of CF A. Effects of mucus buildup in the lungs on respiratory function B. Consequences of mucus blockage in the pancreas on digestive enzyme release, malabsorption, and malnutrition C. Impact of CF on the reproductive system, sweat glands, and overall quality of life IV. Key Points to Cover A. Respiratory infections, inflammation, and lung damage B. Digestive issues, malabsorption, and malnutrition C. Impact on reproductive system, sweat glands, and quality of life V. Conclusion A. Recap of the physiological impacts of CF on the body B. Importance of medical management and assistance for CF patients C. Call to action for increased awareness and support for those affected by CF References: 1. Cystic Fibrosis Foundation. "About Cystic Fibrosis." www(dot)cff(dot)org/what-is-cf/ 2. Bell, Scott C. "Cystic Fibrosis: Overview." In Stat Pearls [Internet]. Stat Pearls Publishing, 2021. 3. Rowe, Steven M., and Garry R. Cutting. "Cystic Fibrosis." New England Journal of Medicine, vol. 372, no. 18, 2015, pp. 1723-1732. 4. Castellani, Carlo, et al. "Cystic Fibrosis: A Clinical View." Cellular and Molecular Life Sciences, vol. 74, no. 1, 2017, pp. 129-140. My Summary I submitted to get topic approval: Cystic Fibrosis: The Physiological Impacts on the Body Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems, leading to various physiological complications (Cutting, 2015). This essay aims to explore the impact of CF on the human body, highlighting the disease's manifestations and the associated challenges faced by individuals living with this condition. CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for regulating the movement of chloride ions across cell membranes (Cutting, 2015). This genetic defect results in the production of thick, sticky mucus that accumulates in various organs, particularly the lungs and pancreas (Elborn, 2016). The buildup of mucus in the lungs can lead to recurrent respiratory infections, inflammation, and progressive lung damage, ultimately impairing respiratory function (Cutting, 2015). Similarly, the accumulation of mucus in the pancreas can obstruct the release of digestive enzymes, leading to malabsorption and malnutrition (Elborn, 2016). In addition to the respiratory and digestive complications, CF can also affect other organ systems, such as the reproductive system and the sweat glands (Cutting, 2015). Individuals with CF may experience infertility, sinus infections, and electrolyte imbalances due to excessive salt loss through sweat (Elborn, 2016). These various physiological impacts can significantly reduce the quality of life for individuals living with CF and necessitate comprehensive medical management and support. References Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56. Elborn, J. S. (2016). Cystic fibrosis. The Lancet, 388(10059), 2519-2531.

Essay Sample Content Preview:

Name Lecturer Course Date Cystic Fibrosis: The Physiological Impacts on the Body Introduction Various genetic complications affect human beings; one of those diseases is Cystic fibrosis (CF). It manifests itself with intense mucus that clogs in breathing system parts like the lungs and also in other parts such as the digestive system. The intense mucus leads to health problems. CF affects the body’s functions and predominantly impacts the lungs and pancreas, resulting in recurrent respiratory infections, breathing problems, and digestive complications. It also affects other parts, such as reproductive organs and sweat glands, resulting in low quality of life. Although modern medicine and technology have offered new treatments aiming at extending CF patients’ life expectancy, this disease is still challenging, requiring treatment throughout the patients’ lives. The essay explores the physiological impacts of cystic fibrosis on the body, examining its symptoms, causes, available treatments, and analysis of those treatments. Symptoms and Physiological Impacts Pulmonary and digestive systems are the worst hit in cystic fibrosis (CF). In the breathing system, cystic fibrosis causes the production and secretion of thick and sticky mucus that forms in the airways. Excessive mucus production creates a conducive environment for the growth of bacteria and, hence, a high tendency for respiratory infections. The frequency of pathogens leads to constant inflammation, which destroys the already weakened lung tissue (Dua et al. pp. 8-15; Cystic Fibrosis Foundation). Over time, this cycle of infection and inflammation results in bronchiectasis, characterized by permanently dilated airways and reduced lung function. Later, patients may experience shortness of breath, chronic coughing, and decreased exercise tolerance. The digestive system is similarly affected by CF. The pancreas, responsible for producing digestive enzymes, becomes obstructed by thick mucus. This obstruction leads to pancreatic enzyme deficiency, severely impairing the body's ability to break and absorb nutrients from food. Consequently, CF patients often suffer from malabsorption and malnutrition, which can result in poor growth, weight loss, and vitamin deficiencies (Cystic Fibrosis Foundation). CF also impacts other body systems. In the reproductive system, men with CF are often infertile as a result of lack or blockage of the vas deferens (Cystic Fibrosis: A Guide for Health Professionals 1). The sweat glands of CF patients produce excessively salty sweat, resulting to electrolyte imbalances and an increased risk of heat exhaustion. These multisystem effects significantly impact patients' overall quality of life, necessitating daily treatments, frequent medical interventions, and lifestyle adjustments (Elborn, pp. 2519–31). CF patients often face challenges in education, employment, and social interactions due to the demanding nature of their condition and its treatments. Causes of Cystic Fibrosis Cystic fibrosis is a hereditary disease caused by mutations in the "Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)" gene. This gene offers commands for generating the CFTR protein, which works as a chloride network on the exterior of cell organs, such as the lungs and pancreas. The change in the CFTR gene results in the release of ineffective CFTR protein or, in some cases, these proteins lack (Cystic Fibrosis Foundation, "Basics of the CFTR Protein"; O'Neal and Knowles. Pp. 201- 205). Over 2,000 various mutations have been recognized, the familiar being the F508del mutation. These mutations can be classified into different types in reference to how they interfere with the CFTR protein's production, how they are made, or their working (Sondo et al., pp. 2). The absence or destruction of CFTR protein interrupts the flow of chloride ions across cell membranes. This impairment lea...

Updated on October 26, 2024

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