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. 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 is the patient 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 would another characteristic (e.g., gender, genetics) change your response? Read a selection of your colleagues’ responses.
Alterations in Cellular Processes
The presented case scenario is of an 18-year-old female with cystic fibrosis (CF). CF is a chronic disease of the lungs and the digestive system. This disease has a genetic predilection. CF is an inherited disease (Chen et al., 2021), and it is caused by a genetic mutation in the gene that codes for a transmembrane conductance regulator protein (CFTR). These mutations can result in defective protein synthesis, increased channel turnover, defective protein processing, defective conductance of the chloride ions, and disordered regulation (Bergeron & Cantin, 2019). Notwithstanding, these mutations cause diminished secretion of chloride ions and accelerated resorption of sodium ions into the cellular space, resulting in a thicker and sticky mucus.
The patient presented with symptoms of increased productive cough, fatigue, and subsequent loss of appetite. Coughs seen in CF are due to the secretion of thick and sticky mucus into the airway openings. The secreted sputum clogs the airway, eliciting a cough reflex (Danevska et al., 2023). Fatigue, apparent in patients with CF, may be due to an interplay of many factors. These include poor sleep quality attributable to a sleep-related decline in oxygen saturation and debilitating cough, respiratory inflammation, and labored ventilation (Orava et al., 2018). All these factors may have interplayed in the patient’s manifestations.
The physiologic response seen in the patient is increased respiratory and cough. An increase in the respiratory rate is a reflex response to a decreased supply of oxygen and elevated CO2 concentration in the blood. This imbalance results from airway obstruction that directly affects ventilation. The cough is a reflex response to airway obstruction. The cells involved in this response are the secretory cells on the airway lining. Defective functioning of these cells results in increased production of thick mucus. This is a consequence of genetic mutations. A factor that would have changed the response to the above is genetics. In the absence of genetic predilection and gene mutations, CF can be ruled out.
References
Bergeron, C., & Cantin, A. M. (2019). Cystic fibrosis: Pathophysiology of lung disease. Seminars in Respiratory and Critical Care Medicine, 40(06), 715–726. https://doi.org/10.1055/s-0039-1694021
Chen, Q., Shen, Y., & Zheng, J. (2021). A review of cystic fibrosis: Basic and clinical aspects. Animal Models and Experimental Medicine, 4(3), 220–232. https://doi.org/10.1002/ame2.12180
Danevska, I. A., Jakjovska, T., Vidoevska, A., Momchilovikj, S., Tasevska, E. G., Popova, G., Mirchevska, V., Arnaudov, D., & Boshkovska, K. (2023). P361 psychological and physical impact of coughing in patients with cystic fibrosis (CF). Journal of Cystic Fibrosis, 22. https://doi.org/10.1016/s1569-1993(23)00731-2
Orava, C., Fitzgerald, J., Figliomeni, S., Lam, D., Naccarato, A., Szego, E., Yoshida, K., Fox, P., Sykes, J., & Wu, K. (2018). Relationship between physical activity and fatigue in adults with cystic fibrosis. Physiotherapy Canada, 70(1), 42–48. https://doi.org/10.3138/ptc.2016-75