ALTERATIONS IN CELLULAR PROCESSES
Scenario :
Patient is an 18-year-old female with a diagnosis of cystic fibrosis who presents with complaints of increased productive cough and fatigue in the last few days. The patient denies a fever but reports that her appetite hasn’t been good because she is so tired. Patient vital signs: BP 110/70, P 110, Res 28 labored, temp 98.4. Physical exam: Lung sounds Diminished breath sounds bilateral lower lobes with crackles in upper lobes.
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.
The disease highlighted in the scenario is cystic fibrosis (CF), a genetic disorder primarily affecting the lungs and digestive system. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a protein involved in the regulation of chloride channels in epithelial cells. Mutations in the CFTR gene lead to dysfunctional or absent CFTR protein, resulting in thick, sticky mucus production in various organs, particularly the lungs and pancreas.
Genetics plays a significant role in CF as it is an autosomal recessive disorder, meaning that an individual must inherit two mutated copies of the CFTR gene (one from each parent) to develop the disease. Carriers of a single mutated CFTR gene typically do not exhibit symptoms but can pass the mutation on to their offspring.
The patient in the scenario presents with increased productive cough, fatigue, diminished breath sounds, crackles in the lungs, and labored breathing. These symptoms are typical manifestations of CF-related lung complications. The increased mucus production in the airways leads to airway obstruction, impaired mucociliary clearance, and chronic bacterial infections, resulting in symptoms such as coughing, difficulty breathing, and fatigue.
The physiologic response to the stimulus presented in the scenario involves the inflammatory response triggered by chronic bacterial infections in the lungs. The body’s immune system attempts to fight off the infections, leading to inflammation and the recruitment of immune cells to the site of infection. This inflammatory process, combined with the accumulation of thick mucus in the airways, contributes to the observed symptoms such as crackles, diminished breath sounds, and labored breathing.
Cells involved in this process include epithelial cells lining the airways, immune cells such as neutrophils and macrophages involved in the inflammatory response, and bacteria colonizing the thick mucus in the lungs.
Regarding the patient’s characteristics, gender itself may not significantly alter the response to CF, as it is inherited in an autosomal recessive manner and affects both males and females equally. However, certain genetic factors, such as specific CFTR mutations or genetic modifiers, may influence disease severity and clinical manifestations in individual patients. Additionally, environmental factors and access to healthcare may also impact disease progression and outcomes.