Pathophysiology Case Study: Alterations in Cellular Processes

Pathophysiology Case Study: Alterations in Cellular Processes

Pathology is a multifaceted field dedicated to the diagnosis of diseases by examining various indicators found in tissues, organs, body fluids, and the entire body. An in-depth comprehension of disease symptoms and the underlying pathophysiological mechanisms is pivotal in mastering the intricacies of pathology. Moreover, proficiency in pathology is indispensable for advanced practice nursing, as it enables effective patient management through the formulation of well-grounded treatment strategies. This discussion delves into the pivotal role played by genetics, the underlying causes of symptom presentation, and the physiological responses to stimuli in a specific case scenario.

The Case Scenario Involves a 16-year-old boy with a sore throat:

The patient reported a persistent sore throat lasting for three days, with no history of ear infections or prior treatment for colds and influenza. Examination revealed a reddened posterior pharynx and the presence of a white exudate emanating from the 3+ enlarged tonsils. Notably, the patient had no known food or drug allergies but subsequently experienced anaphylaxis following the administration of the first dose of amoxicillin.

Role of Genetics:

Sore throat infections are commonly attributed to streptococcus group A bacteria. The recurrence of such infections is often associated with an inherent genetic predisposition that compromises the body’s immune response, rendering it incapable of effectively combating the infection. Comprehensive genome-wide association studies have even indicated a shared genetic basis between autoimmunity, related phenotypes, and allergies. These insights stem from the identification of specific gene associations, emphasizing the impact of genetic factors on allergic responses to particular triggers.

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Presentation of Symptoms:

Symptoms serve as crucial indicators of underlying diseases, necessitating a thorough investigation to establish an accurate diagnosis within the realm of pathology. In this case, the streptococcus bacteria’s infection triggered an inflammatory response in the throat, manifesting as pain, redness, and swelling of the tonsils. The production of exudate can be attributed to the immune system’s reaction to bacterial invasion, resulting in pus formation. The onset of anaphylactic reaction involves the excessive release of chemical mediators upon exposure to specific allergens. This chemical cascade leads to distressing symptoms such as dyspnea, swelling of the tongue and lips, and wheezing. The patient’s development of an anaphylactic reaction after taking amoxicillin suggests a potential allergy to penicillin, a known trigger for such hypersensitive responses.

Physiologic Response to the Stimulus and Involved Cells:

The infection by streptococcus group A bacteria, confirmed through a rapid strep test, manifests as enlarged tonsils that produce exudate and the presence of positive cervical adenopathy. These physical presentations stem from the body’s immune response, aimed at combating the infection. The immune response involves the release of various mediators, including chemokines, PGE2, leukotriene B4, eicosanoids, proinflammatory cytokines, and antimicrobial peptides.

Anaphylactic reactions, on the other hand, occur due to the release of chemical mediators triggered by exposure to allergenic stimuli. Noteworthy chemical mediators in this process include histamine, which induces increased vasodilation and permeability, leading to changes in cardiac contractility and heart rate. Prostaglandin D serves as a pulmonary and cardiac vasoconstrictor, contributing to peripheral vasodilation and reduced perfusion of vital organs. Leukotrienes play a significant role in bronchoconstriction and airway remodeling, leading to breathing difficulties. Additional notable chemical mediators encompass platelet activation factor and TNF alpha.

Consideration of the patient’s age is paramount in the management of group A streptococci infection. This consideration assumes heightened significance in elderly populations, where such infections can escalate into life-threatening conditions, particularly in individuals residing in long-term care facilities. Effectively managing the disease in this demographic necessitates a distinct approach that encompasses extensive collaboration, involving infectious disease practitioners, staff members, and public health officials. This collective effort is crucial in preventing and managing group A streptococci outbreaks.

References:

– Crotty, S. (2020). Strep Throat. Retrieved from La Jolla Institute For Immunology: https://www.lji.org/diseases/strep-throat/

– Kevin P. High, H. T. (2007). Group A Streptococcal Disease in Long-Term Care Facilities: Descriptive Epidemiology and Potential Control Measures. Oxford ACADEMIC.

– Klaus Bønnelykke, R. S. (2015). Genetics of allergy and allergic sensitization: common variants, rare mutations. National Center for Biotechnology Information.

– McLendon, K., & Standard., B. T. (2021). Anaphylaxis. National Center for Biotechnology Information.

Discussion: Alterations in Cellular Processes

Pathology constitutes the core study of diseases, where diseases arise from various underlying factors. Some diseases, such as cystic fibrosis and Parkinson’s Disease, result from alterations that hinder normal cellular functioning.

Understanding the signals and symptoms associated with alterations in cellular processes is pivotal for diagnosing and treating many diseases. Advanced Practice Registered Nurses (APRNs) can leverage this understanding to educate patients and guide them through their treatment plans.

In this discussion, we analyze a case study to elucidate the suggested disease, explore the reported symptoms, elucidate the cells involved, and consider potential alterations and their impacts.

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.

Genetic factors play two roles in this case. Firstly, genetics contribute to recurrent infections, especially when genetic factors reduce immunity or lead to allergies. Additionally, genetic variations can be instrumental in triggering hypersensitivity reactions, as seen in the patient’s response to amoxicillin. It’s possible that a mutation in the patient’s HLA-B*55:01 gene is linked to mild penicillin allergies, necessitating a thorough investigation to find alternative antibiotics that won’t induce anaphylaxis.

References:

– Krebs, K., Bovijn, J., Zheng, N., Lepamets, M., Censin, J. C., Jürgenson, T., … & Fadista, J. (2020). Genome-wide study identifies association between HLA-B* 55: 01 and self-reported penicillin allergy.

The American Journal of Human Genetics, 107(4), 612-621.
– Loh, J. M., Lorenz, N., Tsai, C. J. Y., Khemlani, A. H. J., & Proft, T. (2017). Mucosal vaccination with pili from Group A Streptococcus expressed on Lactococcus lactis generates protective immune responses. Scientific reports, 7(1), 1-9.