Discussion: Alterations in Cellular Processes

Discussion: Alterations in Cellular Processes

Pathophysiology case study discussion

Pathology is the study of disease diagnosis through the investigation of indicators for a given disease in samples of surgically removed tissues, organs, body fluids, and even the whole body. Proper understanding of disease symptoms and underlying pathophysiology is imperative in the mastery of pathology. Furthermore, competency in pathology is essential in advanced Practice Nursing since it ensures effective patient management through the employment of rational treatment plans. This discussion highlights the role of genetics, underlying reasons for symptom manifestation, and physiologic response to the stimulus presented in a case scenario Discussion: Alterations in Cellular Processes.

The case scenario involves a 16-year –old boy that presents with a sore throat that had persisted for three days with a negative past medical history of ear infections, nor treatment of colds and influenza. His posterior pharynx is reddened and produces a white exudate from the 3+ enlarged tonsils. The patient has no known food and drug allergies but later presents with anaphylaxis upon taking the first dose of amoxicillin.

Role of genetics.

Sore throat infections are commonly due to infection by streptococcus group A bacterium. Recurrent infection by the bacteria is linked to an underlying genetic predisposition that makes the body’s immune system unable to fight off the infection (Crotty, 2020). The large scale genome-wide association studies suggest shared genetics between autoimmunity, related phenotypes, and allergy. This finding is based on the identification of GWAS of monogenic diseases. Furthermore, these findings support the concept of an allergic response to particular triggers being affected by genetic factors (Klaus Bønnelykke, 2015).

Presentation of symptoms.

            Signs and symptoms are indicative features of an underlying disease. Therefore, investigating and understanding the presenting signs and symptoms is imperative in establishing a rational diagnosis in pathology. For example, infection by the streptococcus bacteria caused an inflammatory response of the throat which presents as pain, reddening and swelling of the tonsils. Production of exudate is also a result of immune response to the bacterial invasion, which results in the production of pus. Anaphylactic response is a condition characterized by excessive release of chemical mediators upon exposure to specific allergens. This production of chemical triggers results in symptoms such as dyspnea, swelling of the tongue and lips, and wheezing. The patient having presented the anaphylactic response upon taking amoxicillin may be allergic to penicillin, which is commonly associated with such reactions Discussion: Alterations in Cellular Processes.

Physiologic response to the stimulus and involved cells.

Infection by streptococcus group A bacterium, as confirmed by a rapid strep test, presents as enlarged tonsils that produce an exudate and positive cervical adenopathy. This presentation is due to an underlying immune response in an attempt to fight off the infection through the release of mediators such as chemokines, PGE2, leukotriene B4, eicosanoids, proinflammatory cytokines, and antimicrobial peptides.

Anaphylactic presentation is due to the release of chemical mediators due to exposure to triggers. Chemical mediators that play a significant role include histamine that leads to increased vasodilation and permeability and changes in cardiac contractility and heart rate. Prostaglandin D is also a chemical mediator that functions as pulmonary and cardiac vasoconstrictor that also causes peripheral vasodilation and vital organs hypoperfusion. Leukotrienes also play a significant role in bronchoconstriction and airway remodeling, which causes difficulty in breathing. Other significant chemical mediators include platelet activation factor and TNF alpha (McLendon & Sternard., 2021).

Consideration of the patient’s age is essential in the management of group A streptococci infection. This consideration is especially significant in elderly populations, whereby it is considered a life-threatening condition, especially in individuals who reside in long term care facilities. Management of the disease in such population thereby requires a different response approach that involves large scale efforts which includes infectious disease practitioners, the staff, and public health officials in an attempt of preventing and managing GAS outbreak (Kevin P. High, 2007)


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.


Discussion: Alterations in Cellular Processes

At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.

Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.

For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and 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 first, as you have mentioned, genetics play a role in the recurrent  infection, especially in cases where genetics contributes to reduced immunity or allergies (Loh et al., 2017). It is also important to appreciate the role of genetics when it comes to triggering the hypersensitivity to amoxicillin.  It is likely that a mutation  in the patient’s HLA-B*55:01 has contributed to the development of mild forms of penicillin allergies in the patient (Krebs et al., 2020). This calls for extricate investigation in order to find an antibiotic that will not trigger anaphylaxis in the patient and thus guarantees positive outcomes in the patient Discussion: Alterations in Cellular Processes.


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 Discussion: Alterations in Cellular Processes.