NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes
This paper is being written to explain the pathology of cystic fibrosis. I personally have a friend who has this disease and have learned from her. The topics that will be covered are, how cystic fibrosis is created at a cellular level, genetics role in cystic fibrosis, the reasoning for the symptoms that the patient presented with, the description of the cells involved in cystic fibrosis, and how other characteristics would change the child’s response to cystic fibrosis. In short what I remember from nursing school is that cystic fibrosis is a genetic disorder which is an autosomal recessive gene that is carried by both the mother and the father. The abnormality occurs in chromosome 7 which is where creates an inability to transport small molecules across the cell’s membrane, which in turn, dehydrates the cells of the epithelium and this then creates dry secretion. This is a broad overview of what this disease is, but I will go into further detail below.
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The Role of Genetics in the Development of the Disease
Genetics plays a crucial role in the manifestation of cystic fibrosis, as elucidated in a PubMed article titled “Cystic fibrosis genetics: from molecular understanding to clinical application.” The disease stems from a defective epithelial cell, inherited as an autosomal recessive gene. This defective cell carries the genetic information, acting as a recipe guiding the cell in protein synthesis (Cutting, 2015). The cystic fibrosis transmembrane conductance regulator gene (CFTR) is pivotal in this context. A person may inherit one or two copies of the CFTR gene, with the latter indicating a mutation in the cystic fibrosis gene. This mutation, stored on chromosome seven, is crucial in presenting the genetic information to the cell during protein synthesis. The presence of two copies of the mutated recipe in the chromosome results in the expression of the cystic fibrosis gene, leading to the development of the disease (McCance et al., 2019).
Understanding the Specific Symptoms in the Patient
The symptoms exhibited by the infant, including salty skin, intermittent stomach swelling, and failure to thrive, have roots in the impact of cystic fibrosis on major organ systems. The epithelial cells, discussed in the Journal of Cystic Fibrosis’s article on “Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy,” play a vital role in various organ systems such as sweat glands, the liver’s bile duct, and the gastrointestinal tract’s intestines. The patient’s malnutrition and stunted growth result from the loss of pancreatic function, necessitating enzyme replacement to prevent cell clogging due to the inability to break down essential nutrients (Cutting, 2015).
Expanding on the patient’s symptoms, the salty skin indicates an imbalance in electrolytes due to malfunctioning sweat glands, while the occasional stomach swelling and poor weight gain stem from the gastrointestinal impact, disrupting nutrient absorption. The critical role of pancreatic function in this scenario emphasizes the need for enzyme replacement therapy to alleviate the symptoms associated with cystic fibrosis (Cutting, 2015).
Analyzing the Physiological Response to the Stimulus in the Scenario and the Underlying Causes
Upon delving into various sources, a comprehensive understanding of the physiological response to the presented stimulus in this patient with cystic fibrosis emerged. The disease initiation involves a mutation in the CFTR gene protein located on chromosome seven, where two copies of the recipe exist. This mutation results in a reduced acceptance of chloride and impaired ion transportation. Consequently, the increased absorption of water disrupts the normal functioning of cilia, leading to the production of dry mucus and the characteristic salty skin observed in the infant.
Further exploring the physiological intricacies, the inflammation and swelling in the stomach can be attributed to the malfunctioning of the CFTR gene protein. In the absence of the correct recipe for the epithelial cell, there is a disturbance in the reabsorption process of sodium, chloride, and potassium within the cell. The recipe typically instructs the cell to maintain these electrolytes outside the cell structure. However, due to the mutation, there is an accumulation of these electrolytes outside the cell, causing a structural backup that hinders the absorption of crucial nutrients. This includes proteins, fats, and fat-soluble vitamins, thereby disrupting the normal cellular processes essential for growth and development.
In essence, the physiological response observed in this patient with cystic fibrosis is intricately linked to the genetic mutation in the CFTR gene protein. This mutation sets off a chain of events that disrupts ion transportation, ciliary function, and nutrient absorption, ultimately manifesting in the distinctive symptoms associated with cystic fibrosis. Understanding these physiological intricacies is vital for developing targeted interventions and personalized treatment plans for individuals affected by this genetic disorder.
Cells Involved in the Process of Cystic Fibrosis
The cellular processes implicated in cystic fibrosis primarily involve epithelial membranes, which are distributed throughout vital organs such as the digestive tract, pancreas, airways, and reproductive areas. As highlighted in a study published in the Apoptosis Journal, cystic fibrosis arises from dysfunction in these epithelial cells, leading to a state of chronic inflammation and an inability to maintain homeostasis, largely due to the persistent inflammation induced by the CFTR gene (Soleti et al., 2013). The consequences of this cellular dysfunction extend to the point where epithelial cells undergo apoptosis, particularly influenced by the inflammatory environment within the endoplasmic reticulum.
Impact of Different Characteristics on Cystic Fibrosis Response
Understanding cystic fibrosis necessitates recognizing the genetic underpinnings of the disease. As emphasized in this exploration, the CFTR gene mutation is integral to the manifestation of cystic fibrosis. A study conducted by the Harvard Stem Cell Institute, focusing on the function of the CFTR gene in isolated lung cells, underscores the significance of proper gene expression. The study reveals that when ionocytes fail to execute their function due to increased levels of CFTR gene expression, it triggers the development of symptoms, including the production of thick mucus. Furthermore, this dysregulation disrupts the body’s ability to regulate sodium, chloride, and potassium in a normal manner (Montoro et al., 2018).
Conclusion: Empowering Prevention through Understanding
Embarking on a profound study of diseases, such as cystic fibrosis, and unraveling their intricate workings not only enriches our understanding but also lays the groundwork for future advancements in healthcare. In the realm of preventive care, early screening at hospitals, coupled with informed discussions with parents about the potential risks and symptoms of cystic fibrosis, can empower individuals to seek timely treatment. Encouraging regular baby checkups becomes a crucial element in this proactive approach, enabling healthcare professionals to pose pertinent questions and initiate early interventions upon recognizing symptoms. As practitioners, our responsibility is to navigate the challenges presented by cystic fibrosis and other conditions, striving to identify issues before they necessitate extreme measures.
Relation to the Case Study and Symptom Analysis
Alterations in cellular processes, such as those observed in cystic fibrosis, provide a foundation for comprehending various diseases, including the one suggested in the case study. Examining reported symptoms allows for the identification of specific cellular involvement, alterations, and their potential impacts. This holistic understanding serves as a crucial guide for Advanced Practice Registered Nurses (APRNs) in diagnosis, treatment, and patient education. By recognizing the signals and symptoms of cellular alterations, APRNs can effectively navigate the complexities of disease management and facilitate informed decision-making for their patients.
To prepare:
By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
By Day 3 of Week 1
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
The role genetics plays in the disease.
Why the patient is presenting with the specific symptoms described.
The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
The cells that are involved in this process.
How another characteristic (e.g., gender, genetics) would change your response.
Read a selection of your colleagues’ responses.
By Day 6 of Week 1
Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
It is indeed accurate that cells serve as the fundamental structural units of the body, each specializing in distinct functions crucial for overall bodily operations. The central dogma underscores the pivotal role of genes in orchestrating cellular specialization and subsequent physiological events. Disease, as you rightly point out, can disrupt the normal functioning of cells, altering their nature and functions. Your analysis of the case involving sore throat related to allergic conditions is both insightful and informative, particularly in highlighting the genetic aspects (Centers for Disease Control and Prevention, 2021).
The prevalence of Group A streptococcus pharyngitis among children and adolescents is a common concern, and your exploration of the associated genes provides a promising avenue for addressing this issue. Understanding the link between hypersensitivity and genetic composition sheds light on the recurrence of such cases, offering valuable insights into potential preventive strategies (McCance & Huether, 2019). I share your perspective that the body’s defense system is triggered by the recognition of pathogens, and the subsequent inflammatory response leads to symptoms like sore throat.
Your acknowledgment of the physiological processes involved in the identification of antigens and the inflammatory pathway resonates well with established scientific understanding. The involvement of various cell mediators in this process, resulting in heat, swelling, and redness, aligns with the classic signs of inflammation. Furthermore, your recognition of age as a defining factor in immune response is astute. The susceptibility of children to certain diseases, as well as the increased vulnerability of the elderly to specific ailments, underscores the intricate interplay between age and immunity. Additionally, your observation regarding drug allergies correlating with age, with a higher prevalence in older individuals, is a pertinent consideration (Soderholm et al., 2018).
In conclusion, your agreement on the significance of severe allergic reactions as a genuine concern emphasizes the gravity of such responses in clinical settings. This nuanced understanding of cellular and immune processes, coupled with insights into genetic influences, enhances our comprehension of disease mechanisms and informs more effective approaches to patient care. Your thoughtful analysis contributes meaningfully to the ongoing dialogue on these intricate aspects of health and disease.
References
Soderholm, A. T., Barnett, T. C., Sweet, M. J., & Walker, M. J. (2018). Group A streptococcal
pharyngitis: Immune responses involved in bacterial clearance and GAS‐associated immunopathology. Journal of leukocyte biology, 103(2), 193-213.
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in
adults and children (8th ed.). Mosby/Elsevier.
Centers for Disease Control and Prevention. (2021, November 23). Pharyngitis (strep throat): Information for clinicians. Retrieved March 1, 2022, from https://www.cdc.gov/groupastrep/diseases-hcp/strep-throat.html
Kidney transplantation is an effective intervention for individuals grappling with end-stage renal disease. Unfortunately, some recipients encounter complications, notably kidney rejection. This paper delves into the rationale behind the manifestation of symptoms in a patient experiencing acute kidney transplant rejection, explores the genes associated with this rejection, and elucidates the process of immunosuppression.
Why the Patient Presented the Symptoms Described
The patient exhibited symptoms encompassing weight gain, decreased urinary output, fatigue, and an elevated temperature of 101°F. Weight gain ensued due to heightened body fluid volume, a consequence of impaired kidney function affecting fluid regulation. The compromised renal function further led to decreased urine output, resulting in oliguria. Kidneys, responsible for eliminating toxins like excess ammonia, struggled in this scenario, contributing to symptoms such as fatigue, poor concentration, acidosis, and anemia. Immunosuppression, a common occurrence in kidney transplant recipients, predisposes patients to infections, thereby explaining the fever observed in the patient (Rauen et al., 2020).
Genes Associated with the Development of the Disease
Several genes have been implicated in kidney transplant rejection, including CYP2EI, CYP3A5, CTLA4, CXL8, epoxy hydrolase 2, coagulation factor II thrombin, and coagulation factor V. Additionally, Forkhead box P3, Fc fragment of IgG receptor IIA, major histocompatibility complex class II, I, DO alpha, interleukin 1 beta, 2, and 2-receptor subunit beta genes play significant roles in rejection. Interleukin genes, for instance, are inflammatory cytokines that modulate inflammatory processes post-allograft. Conversely, they also impede the maturation of antigens and cells responsible for developing host immunity after transplantation. ATP-binding genes enhance the body’s resistance to drugs employed in immune system suppression following a transplant (Arnold et al., 2022; Spicer & Runkel, 2019; van Vugt et al., 2022).
Process of Immunosuppression
Immunosuppression refers to the state where the body’s ability to combat infections is diminished. This can result from medications used in conditions like cancer, diseases that depress the immune system such as cancer and HIV, and treatments like radiotherapy and chemotherapy for cancer. The consequences of immunosuppression are multifaceted, ranging from heightened susceptibility to infections to increased financial burdens due to frequent hospitalizations. Prolonged infections adversely impact patients’ quality of life, and in severe cases, may lead to fatalities when the immune system is severely compromised (Gupta et al., 2021).
Conclusion
In summary, the patient’s symptoms emanated from diminished renal function, and genetic factors played a pivotal role in the development of kidney transplant rejection. This rejection, in turn, instigated immunosuppression, underscoring the intricate interplay of factors influencing health outcomes in kidney transplant recipients.
References
Arnold, M.-L., Heinemann, F. M., Oesterreich, S., Wilde, B., Gäckler, A., Goldblatt, D., Spriewald, B. M., Horn, P. A., Witzke, O., & Lindemann, M. (2022). Correlation of Fc Receptor Polymorphisms with Pneumococcal Antibodies in Vaccinated Kidney Transplant Recipients. Vaccines, 10(5), Article 5. https://doi.org/10.3390/vaccines10050725
Gupta, R., Woo, K., & Yi, J. A. (2021). Epidemiology of end-stage kidney disease. Seminars in Vascular Surgery, 34(1), 71–78. https://doi.org/10.1053/j.semvascsurg.2021.02.010
Rauen, T., Wied, S., Fitzner, C., Eitner, F., Sommerer, C., Zeier, M., Otte, B., Panzer, U., Budde, K., Benck, U., Mertens, P. R., Kuhlmann, U., Witzke, O., Gross, O., Vielhauer, V., Mann, J. F. E., Hilgers, R.-D., Floege, J., Floege, J., … Hilgers, R.-D. (2020). After ten years of follow-up, no difference between supportive care plus immunosuppression and supportive care alone in IgA nephropathy. Kidney International, 98(4), 1044–1052. https://doi.org/10.1016/j.kint.2020.04.046
Spicer, P., & Runkel, L. (2019). Costimulatory pathway targets for autoimmune and inflammatory conditions: Clinical successes, failures, and hope for the future. Expert Opinion on Investigational Drugs, 28(2), 99–106. https://doi.org/10.1080/13543784.2019.1557146
van Vugt, L. K., Schagen, M. R., de Weerd, A., Reinders, M. E., de Winter, B. C., & Hesselink, D. A. (2022). Investigational drugs for the treatment of kidney transplant rejection. Expert Opinion on Investigational Drugs, 31(10), 1087–1100. https://doi.org/10.1080/13543784.2022.2130751
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