Advanced Patho 6501 Assignment

Cystic fibrosis (CF) is a hereditary disorder that severely damages the lungs, digestive system, as well as other body organs. CF affects the cells involved in the production of mucus, digestive juices, and sweat (Kulkarni et al., 2019). People and children with cystic fibrosis have a defective gene that makes the secreted mucus and digestive juices thicker than usual.

The baby in this case study manifests symptoms such as crying after eating, no weight gain, and a swollen belly due to the defect in the production of digestive juices. The produced mucus also tampers with the function of the pancreas and hence prevents the enzymes from breaking down food properly and this leads to digestive problems, including malnutrition that is manifesting as lack of weight gain for the baby.  Additionally, the baby tastes “salty” because CF also affects cells involved in the production of sweat. The respiratory symptoms can be due to CF causing the secreted mucus to be thick and plug up tubes and passageways such as lungs.

Cystic fibrosis is caused by the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene that produces CFTR protein. CFTR protein regulates the flow of fluids and salt in and out of the cell, within various body parts (Guo et al., 2018). Therefore, when the mutations of the CFTR gene occurs, the normal functioning or production of CFTR protein is disrupted. CFTR protein is mainly located in the lungs and other body parts. Mutations of the CFTR gene impairs the CFTR protein or leads to CFTR protein not being produced and this leads to the accumulation of thick mucus (Guo et al., 2018). The accumulation of the thick mucus causes persistent lung infections, damages the pancreases, and can also lead to complications within other body organs.

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Cystic fibrosis is most prevalent among Caucasians and not so common in other ethnic groups. CF affects approximately 1 in 2,500-3,00 white newborns (Bosch et al., 2017). The distribution of mutations of the CFTR gene differs depending on the patient’s background. For instance, the most common mutation among the Caucasian population of northern European origin is ΔF508 (Bosch et al., 2017). However, the clinical manifestations of CF are the same in both white and black populations, but the black population has a poorer nutrition status. Black populations with CF are diagnosed when younger and have poorer pulmonary function and nutrition status when compared to white patients with CF.

As aforementioned, CF occurs due to a mutation of the CFTR gene involved in the ion channel and this leads to a highly vicious and cloggy mucus that leads to the dysfunction and impairment of the lungs, gastrointestinal organs, and other body organs (Kulkarni et al., 2019). This causes frequent infections and chronic infections for patients with CF and hence lowers their immunity (Clarke et al., 2018). Additionally, studies show that patients with cystic fibrosis lack a cell surface molecule that helps in immune defense, further lowering the immunity (Clarke et al., 2018).

References

Bosch, B., Bilton, D., Sosnay, P., Raraigh, K. S., Mak, D. Y., Ishiguro, H., … & De Boeck, K. (2017). Ethnicity impacts the cystic fibrosis diagnosis: a note of caution. Journal of Cystic Fibrosis, 16(4), 488-491.

Clarke, E. A., Ibrahim, M., Martin, K., Freeston, J. E., Watson, P., Peckham, D., … & Horsley, A. R. (2018). P130 Immunosuppression in cystic fibrosis: how worried should we be? Journal of Cystic Fibrosis, 17, S95-S96.

Guo, X., Liu, K., Liu, Y., Situ, Y., Tian, X., Xu, K. F., & Zhang, X. (2018). Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases. Orphanet journal of rare diseases, 13(1), 224. https://doi.org/10.1186/s13023-018-0968-2

Kulkarni, H., Kansra, S., & Karande, S. (2019). Cystic fibrosis revisited. Journal of postgraduate medicine, 65(4), 193–196. https://doi.org/10.4103/jpgm.JPGM_263_18

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Module 1 Assignment: Case Study Analysis

An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.

Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.

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An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.

In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factors in the diagnosis, and you explain the implications to patient health.

To prepare:

By Day 1 of this week, you will be assigned to a specific case study for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.

The Assignment (1- to 2-page case study analysis)

Develop a 1- to 2-page case study analysis in which you:

  • Explain why you think the patient presented the symptoms described.
  • Identify the genes that may be associated with the development of the disease.
  • Explain the process of immunosuppression and the effect it has on body systems.

By Day 7 of Week 2

Submit your Case Study Analysis Assignment by Day 7 of Week 2.

Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.

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