1. Ogechukwu Josephine Osibe
Alterations in Cellular Processes
Genetics has a significant role in cystic fibrosis. According to H et al. (2023), respiratory infections and inadequate mucociliary clearance in the airways are the results of a hereditary condition known as cystic fibrosis (CF). According to Pirgon et al. (2012), chromosome 7 contains the gene that codes for the CF transmembrane conductance regulator protein. Mutations in this gene cause cystic fibrosis (CF). A protein that is a cyclic adenosine monophosphate-regulated chloride channel is encoded by this gene. In several organs (e.g., lung, pancreas, sweat gland, liver, nasal mucosa, salivary gland, and colon), aberrant conductance across the apical membrane of epithelial ductal cells is caused by abnormal channel activity, causes an excess of thick mucus to build up in the respiratory and digestive systems.
According to Pirgon et al. (2012b), the typical clinical presentation of cystic fibrosis (CF) involves signs of pancreatic insufficiency together with recurrent and persistent lung infections. Sousa et al. (2018), the accumulation of hyper concentrated secretions and impaired mucociliary function obstruct airway flow and prevent the appropriate activation of antibacterial defensins, which facilitates microbial colonization of the respiratory tract and leads to recurrent infections and progressive loss of lung function [43]. The reason cystic fibrosis sufferers have more productive coughs and get exhausted is because of thick, sticky mucus that clogs their airways. Mucus buildup makes it more difficult for germs and debris to be removed from the respiratory system, which leads to recurrent respiratory infections and a cough that gets worse. The fatigue could be brought on by the greater effort required to breathe from the compromised respiratory system.
During the physical examination, decreased breath sounds and crackles are indicators of a clogged airway and inadequate lung airflow. The respiratory rate of 28 is a natural response to mucus accumulation in the airways, which lowers gas exchange efficiency. To compensate for the decreased oxygenation, the body increases the rate of respiration.
According to Shah et al. (2022), the epithelial cells of the respiratory tract have a role in cystic fibrosis. These cells have a faulty CFTR protein, which causes altered chloride transport and thicker mucus. Mucus draws bacteria in and causes inflammatory reactions, which is the root cause of chronic respiratory issues.
Depending on a person’s gender, cystic fibrosis might have different symptoms and intensities. Females with CF may have a milder course of the illness than males. However, there are individual variances and gender does not necessarily have the same impact. More specifically, according to H et al. (2023), the degree and manifestations of cystic fibrosis are determined by genetic variables, such as specific mutations in the CFTR gene.
Finally, the patient’s symptoms are consistent with the pathophysiology of cystic fibrosis, which is brought on by genetic defects that lead to a build-up of mucus in the respiratory system, which results in fatigue and long-term respiratory issues. The observed clinical appearance is due to an underlying genetic defect, although the physiologic response includes compensatory mechanisms to maintain oxygenation
References
H, C. M., Guzior, D. V., González, C., Okros, M., Mielke, J. A., Padillo, L., Querido, G., Gil, M., Thomas, R. M., McClelland, M., Conrad, D., Widder, S., & Quinn, R. A. (2023). Longitudinal microbial and molecular dynamics in the cystic fibrosis lung after Elexacaftor–Tezacaftor–Ivacaftor therapy. Respiratory Research, 24(1). https://doi.org/10.1186/s12931-023-02630-zLinks to an external site.
Pirgon, Ö., Çekmez, F., & Eren, E. (2012b). Rapid progression to diabetes in a four-year-old girl with cystic fibrosis. British Journal of Biomedical Science, 69(1), 39–41. https://doi.org/10.1080/09674845.2012.11978245
Sousa, A. a. R., Fernández, J. M. B., Miller, J. P., & Mir-Montejano, M. (2018). Physiological study of pulmonary involvement in adults with cystic fibrosis through simulated modeling of different clinical scenarios. Medical & Biological Engineering & Computing, 57(2), 413–425. https://doi.org/10.1007/s11517-018-1885-1
Shah, V. S., Chivukula, R. R., Lin, B., Waghray, A., & Rajagopal, J. (2022). Cystic Fibrosis and the Cells of the Airway Epithelium: What Are Ionocytes and What Do They Do? Annual Review of Pathology-mechanisms of Disease, 17(1), 23–46. https://doi.org/10.1146/annurev-pathol-042420-094031.
2. Mary Salgado
The role of genetics plays in the disease.
Cystic fibrosis (CF) is a genetic disorder that is passed down in an autosomal recessive way. Our 18-year-old patient inherited two copies of the defective CF gene, which has been found to have more than 1,700 mutations (MedlinePlus, 2021). Depending on the mutation, it can affect the severity and course of the condition.
According to the National Institutes of Health, people with cystic fibrosis have a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affects a protein that controls how salt gets into and out of cells (2023). As a result of these changes, mucus thickens and becomes sticky, while the amount of salt in perspiration increases.
Why is the patient presenting with the specific symptoms described?
Cystic fibrosis patients’ bodies create excessively thick and sticky mucus (MedlinePlus, 2021). This abnormal mucus can clog the airways, causing serious breathing issues and lung bacterial infections. These infections result in prolonged coughing, wheezing, and inflammation (MedlinePlus, 2021).
Cystic fibrosis is a hereditary condition characterized by thick, sticky mucus accumulation that can harm multiple organs (MedlinePlus, 2021). The condition’s most prevalent indications and symptoms are increasing respiratory impairment and chronic digestive issues (MedlinePlus, 2021). The disorder’s characteristics and severity vary by individual.
The poor appetite may be related to the majority of cystic fibrosis patients also suffer from digestive issues (MedlinePlus, 2021). Other digestive issues arise from the accumulation of thick, sticky mucus in the pancreas. The pancreas is an organ that makes insulin (a hormone that regulates blood glucose levels). It also produces enzymes that aid digestion. Mucus in cystic fibrosis patients frequently affects the pancreas, reducing its capacity to produce insulin and digesting enzymes. Digestive issues can include diarrhea, malnutrition, poor growth, and weight loss.
The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
The patient presents an increased work of breathing at 28 respirations with crackles in the upper lobes and diminished lower lung sounds bilaterally. Having diminished breath sounds can indicate decreased ventilation and the progression of an illness. On the other hand, having more intense breath sounds correlates with more profound ventilation (Zimmerman & Williams, 2023). The intensity decreases when fluid, air, or other substances enter the pleural space (Zimmerman & Williams, 2023). Considering the individual clinical setting while interpreting adventitious noises is crucial, as they represent the underlying disease. According to Zimmerman and Williams (2023), infections, pulmonary edema from heart failure, and interstitial lung disease frequently cause crackles or the sound of airways snapping open. In this case, CF.
The cells that are involved in this process.
According to Lara-Reyna et al. (2020), CFTR mutations have a significant impact on epithelial and secretory cells because they alter physiological function as a result of abnormal CFTR protein production, maturation, and function and aberrations in ion transport, particularly chloride ions.
Neutrophils are thought to be the first line of defense against infection. They make up about 60% of all white blood cells and are the most common type of circulating leukocyte (Ley et al., 2018). In CF, the number of neutrophils in pulmonary capillaries rises.
A common consequence of cystic fibrosis is inflammation, as previously mentioned. While monocytes, neutrophils, and epithelial cells are all important in CF infections, macrophages are mostly responsible for starting and stopping the inflammatory response (Lara-Reyna et al., 2020).
How would another characteristic (e.g., gender, genetics) change your response?
Though the gender of my patient may not change my response, genetics, depending on which 1,700 mutations have been identified within the defective CF gene, would alter my response.
References
Lara-Reyna, S., Holbrook, J., Jarosz-Griffiths, H., Peckham, D., & McDermott, M. F. (2020). Dysregulated signalling pathways in innate immune cells with cystic fibrosis mutations. Cellular and Molecular Life Sciences, 77(22), 4485–4503. https://doi.org/10.1007/s00018-020-03540-9
Ley, K., Hoffman, H. M., Kubes, P., Cassatella, M. A., Zychlinsky, A., Hedrick, C. C., & Catz, S. D. (2018). Neutrophils: New insights and open questions. Science immunology, 3(30), eaat4579. https://doi.org/10.1126/sciimmunol.aat4579
MedlinePlus (2021). MedlinePlus genetics: Cystic fibrosis. National Library of Medicine. https://medlineplus.gov/genetics/condition/cystic-fibrosis/
National Institutes of Health. (2023). Cystic fibrosis: Causes. The National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes
Zimmerman, B., & Williams, D. (2023). Lung sounds. StatPearls – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK537253/
