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.

Alterations in cellular processes | NURS 6501 – Advanced Pathophysiology | Walden University

Introduction

Pathology is the branch of medical science that studies the cause and effects of diseases. Understanding the signs and symptoms of diseases is essential in diagnosing and treating patients. In this discussion, we will examine a case study and explain the disease that is suggested. We will explore the role genetics plays in the disease, why the patient is presenting specific symptoms, the physiologic response to the stimulus presented in the scenario, and the cells involved in the process. Finally, we will discuss how another characteristic, such as gender or genetics, would change our response.

Scenario:

Mrs. Jones is a 38-year-old female who presents with a 3-month history of weakness, fatigue, weight loss, and occasional palpitations. She also reports increased thirst and frequent urination. She has no significant past medical history, and her family history is unremarkable. On physical examination, she is afebrile, with a pulse rate of 90 beats per minute, blood pressure of 120/80 mmHg, and a BMI of 22. Laboratory results reveal an elevated fasting glucose of 270 mg/dL, hemoglobin A1C of 11%, and a low serum potassium level of 3.2 mEq/L.

Explanation:

Based on the patient’s symptoms and laboratory results, the disease highlighted in this scenario is Type 1 diabetes mellitus. Type 1 diabetes is a chronic autoimmune disease characterized by the destruction of pancreatic beta cells, which results in the loss of insulin production. The loss of insulin leads to hyperglycemia, which is a hallmark of diabetes.

Role of Genetics:

Type 1 diabetes is caused by genetic and environmental factors. Studies suggest that certain genes, such as the human leukocyte antigen (HLA) gene complex, are involved in the development of Type 1 diabetes. Individuals who carry specific variants of the HLA gene complex are at a higher risk of developing Type 1 diabetes.

Presenting Symptoms:

The patient is presenting with weakness, fatigue, weight loss, increased thirst, frequent urination, and occasional palpitations. These symptoms are commonly seen in patients with uncontrolled diabetes. Hyperglycemia leads to an osmotic diuresis, which causes increased thirst and frequent urination. The patient’s weight loss is due to the breakdown of fat and muscle tissue, which occurs when the body cannot use glucose for energy.

Physiological Response:

The physiologic response to the stimulus presented in this scenario is the release of glucagon, which is a hormone produced by the pancreas that stimulates the liver to release glucose into the bloodstream. The release of glucagon occurs when blood glucose levels drop too low. In this scenario, the patient has a low serum potassium level, which can cause weakness and fatigue. The release of glucagon is a compensatory mechanism that raises blood glucose levels to provide energy to the body.

Cells Involved:

The cells involved in Type 1 diabetes are pancreatic beta cells. These cells produce insulin, which regulates blood glucose levels. In Type 1 diabetes, the immune system mistakenly attacks and destroys beta cells, leading to a loss of insulin production.

Impact of Gender and Genetics:

Gender and genetics can impact the development and management of Type 1 diabetes. Studies suggest that females have a higher incidence of Type 1 diabetes than males. Additionally, individuals with a family history of Type 1 diabetes are at a higher risk of developing the disease. Understanding the impact of gender and genetics on the disease can help healthcare providers develop personalized treatment plans for patients.

Conclusion:

In conclusion, Type 1 diabetes is a chronic autoimmune disease caused by the destruction of pancreatic beta cells. Genetics and environmental factors play a role in the development of the disease. The patient in the scenario is presenting with common symptoms of uncontrolled diabetes, such as