NURS 6501 Alterations in Cellular Processes Essay
Discussion: Alterations in Cellular Processes
By Day 3 of Week 1
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.
Read a selection of your colleagues’ responses.
Alterations in Cellular Processes
For this discussion I have been assigned Scenario 2, a 6-month-old female recently diagnosed with cystic fibrosis who is accompanied by her mother who has questions and concerns regarding the diagnosis. Cystic fibrosis (CF) is an autosomal recessive trait (Perry et al., 2018) which means that the child inherits the defective gene from both parents. According to Perry et al. (2018), there is a 1 in 4 risk of CF if both parents carry the defective gene. The mutations resulting in CF are from a gene on chromosome 7 which produces the CF transmembrane regulator (CFTR) protein that is responsible for regulating sodium and chloride channels on the epithelial surfaces; CFTR gene mutations alter the protein in a manner that blocks the channels (Lewis et al., 2017).
CF is a multisystem disease due to the altered function of the exocrine glands that primarily involve the lungs, digestive tract, and reproductive tract (Lewis et al., 2017). The patient is presenting with symptoms of growth failure despite having a healthy appetite and abdominal distention, which are clinical manifestations consistent with the gastrointestinal involvement in CF (Perry et al., 2018). The “salty” taste when kissing the baby that the mother reported is also consistent with CF as they typically excrete four times the normal amount of sodium and chloride in sweat (Lewis et al., 2017).
The cells involved in the process of CF are epithelial cells (McCance & Huether, 2019), more specifically the specialized epithelial Goblet cells, that line mucosal surfaces. The mucus produced by these affected epithelial cells have a higher than normal viscosity, which can be attributed to the excessive sodium absorption and defective chloride secretion resulting in a higher incidence of mucus production and mucus plugging (McCance & Huether, 2019). I would recommend that the mother has her 23-month-old son evaluated for CF, given her reports of his episodic chest congestion and pneumonia in conjunction with a now positive family history, and because siblings can have differing clinical presentations of CF (McCance & Huether, 2019). I would also recommend that both parents undergo genetic counseling in response to her asking if she should have any more children. I was not able to identify any additional characteristics, such as gender or genetics, that would change my response.
References:
Lewis, S., Bucher, L., Hagler, D., Heitkamper, M., Harding, M., Kwong, J., & Roberts, D. (2017). Clinical companion to
medical-surgical nursing: Assessment and management of clinical problems (10th ed.). Elsevier.
McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.).
Elsevier.
Perry, S., Hockenberry, M., Lowdermilk, D., Cashion, K., Alden, K., Olshansky, E., Wilson, D., & Rodgers, C. (2018). Maternal
child nursing care (6th ed.). Elsevier.
By Day 6 of Week 1
Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
Great post! As an OBGYN nurse for several years, cystic fibrosis is one of the genetic conditions that we educate patients on. We offer carrier screening tests to each pregnant patient in our office. The carrier screening tests help identify if a parent is a carrier. A positive result is around 99% accurate; however, a negative result does not always mean the parent is not a carrier (Cystic Fibrosis Foundation, 2021). There are more than 1,700 mutations of the CFTR gene and none of the available screening tests can screen for each of the known mutations. Cystic fibrosis causes mutations in the CFTR gene, which then results in the CFTR protein to either not be produced, or not function correctly. This prohibits the proper flow of chloride in and out of epithelial cells, leading to an accumulation of mucous, chronic lung infections, and destruction of the pancreas (Lopes-Pacheco, 2020). The severity of cystic fibrosis symptoms can be linked to the classification of the CF mutation. Mutation classifications include class I (protein synthesis defect), class II (maturation defect), class III (gating defect), class IV (conductance defect), class V (reduced quantity), and class VI (reduced stability) (Veit et al., 2016). Class I, II, and III mutations are typically linked to more severe disease and classic presentation of symptoms (Lopes-Pacheco, 2020).
References
Cystic Fibrosis Foundation. (2021). About cystic fibrosis. https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
Lopes-Pacheco, M. (2020). CTFR modulators: The changing face of cystic fibrosis in the era of
precision medicine. Frontiers in Pharmacology, 10(1), 1662. https://doi.org/10.3389/fphar.2019.01662
Veit, G., Avramescu, R., Chiang, A., Houck, S., Cai, Z., Peters, K., Hong, J., Pollard, H.,
Guggino, W., Balch, W., Skach, W., Cutting, G., Frizzell, R., Sheppard, D., Cyr, D., Sorscher, E., Brodsky, J., & Lukacs, G. (2016). From CFTR biology toward combinatorial pharmacotherapy: Expanded classification of cystic fibrosis mutations. Molecular Biology of the Cell, 27(3), 424-433. https://doi.org/10.1091/mbc.E14-04-0935
