Answer to Discussion Alterations in Cellular Processes
NURS 6501 week 1 Discussion: Alterations in Cellular Processes
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.
Alterations in Cellular Processes Complete answer
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
Respond to the case study/discussion below, whether you respectfully agree or disagree with the case assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not.
Case Study
“A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.”
Cystic fibrosis is a genetic disease that is passed down from both parents and is what’s called an “autosomal recessive multisystem disease” (Tam et al., 2022). It appears most commonly in the Caucasian population and is caused by the “genetic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in the dysfunction of the CFTR protein” at the cellular level (Tam et al., 2022).
The role genetics plays in the disease
The role of the genetics of cystic fibrosis is as follows: cystic fibrosis is a recessive disease that can be passed on from generation to generation through heterozygous parents as carriers of the disease without showing symptoms (McCance and Huether, 2019, pp.152). When both parents of the child with cystic fibrosis carry the recessive allele, they have a 25% chance of producing a homozygous child who presents with the disease (McCance and Huether, 2019, pp.152).
Why the patient is presenting with the specific symptoms described.
Cystic Fibrosis causes symptoms of gastric inflammation caused by the dysfunction of the CFTR gene which causes defective chloride, sodium, and bicarbonate ion transport in the epithelial cells of the small and large intestines (Rout-Pitt et al., 2018). “Defective transport of chloride ions leads to a salt imbalance that results in secretions of abnormally thick, dehydrated mucus” (McCance and Huether, 2019, pp.152). Therefore the child tastes salty according to the mother. It has been hypothesized that “intestinal inflammation may intensify poor growth and malabsorption” of nutrients which would explain why the baby has not been gaining weight properly (Tam et al., 2022). The fussiness and crying after eating could be caused by “intestinal dysmotility and the pooling of intraluminal contents” common in cystic fibrosis which is not yet fully understood if it is due to an atypical enteric nervous system or lack of the CFTR protein (Tam et al., 2022). “Some of the digestive organs, particularly the pancreas, become obstructed [in cystic fibrosis], causing malnutrition, and the lungs become clogged with mucus, making them highly susceptible to bacterial infections” (McCance and Huether, 2019, pp.151). This would explain the child’s decreased weight gain and why the child’s brother has frequent chest congestion and has been hospitalized for pneumonia.
The physiologic response to the stimulus in the scenario and the Cells Involved in the Process
The stimulus in this scenario is food introduced to the gastrointestinal tract. The response of the cells in the intestines to the stimulus of food is when food reaches the intestines of an individual with cystic fibrosis, the epithelial cells of the intestines become more permeable, so they allow more bacteria and other nutrients into the epithelium than what is normal, causing inflammation of the gut lining (Tam et al., 2022). This can also cause intestinal dysmotility, which is when the intestines do not move or pass stool as they should, causing the backup of the contents in the bowels (Tam et al., 2022). The dysfunction of the CFTR due to the lack of the CFTR gene causes a diminished fight against inflammatory responses of the epithelial lining of the gut (Tam et al., 2022). These can all lead to abdominal discomfort after eating, which is the response that the child has. Eating a high-fat diet could also be the cause because individuals with cystic fibrosis do not absorb fat well due to the reduced variety of the gut microbiome in relation to the microbiome being disproportionately displaced from the fact of increased permeability of the epithelial cells (Tam et al., 2022). The main cells involved are the epithelial cells in the digestive tract, namely in the small and large intestinal crypts (Tam et al., 2022).
How another characteristic (e.g., gender, genetics) would change your response
If the child had other characteristics such as being a female, I would possibly state that there have been studies that have shown that there is no difference in growth between males and females with cystic fibrosis, but females have a higher mortality rate than males with the disease (Alicandro et al., 2019). Since she and her husband are both heterozygous carriers of the recessive allele for cystic fibrosis, I would inform the mother that each time she may get pregnant, there is a 25% chance of having a homozygous child with cystic fibrosis and a 50% chance of having a heterozygous child who would be a carrier of the recessive allele and could pass down this disease to their own children (McCance and Huether, 2019, pp.152). My response to the mother on whether she should have more children is her choice based on these predicted outcomes.
Resources
Alicandro, G., Bisogno, A., Rota, M., Padoan, R., & Colombo, C. (2019). No gender differences in growth patterns in a cohort of children with cystic fibrosis born between 1986 and 1995. Clinical Nutrition (Edinburgh, Scotland), 38(4), 1782–1787. https://doi.org/10.1016/j.clnu.2018.07.025
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Rout-Pitt, N., Farrow, N., Parsons, D., & Donnelley, M. (2018). Epithelial mesenchymal transition (EMT): a universal process in lung diseases with implications for cystic fibrosis pathophysiology. Respiratory Research, 19(1), 1–10. https://doi.org/10.1186/s12931-018-0834-8
Tam, R. Y., van Dorst, J. M., McKay, I., Coffey, M., & Ooi, C. Y. (2022). Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions. Journal of Clinical Medicine, 11(649), 649. https://doi.org/10.3390/jcm11030649
Sample Answer for NURS 6501 week 1 Discussion: Alterations in Cellular Processes
Explaining cystic fibrosis (CF) to the mother would include an overview of the disease itself including its presentation and explanation of the symptomology as well as an explanation of its pathophysiology. The explanation would include the fact that cystic fibrosis is one of the most common autosomal recessive diseases in Caucasian populations (if patient noted as Caucasian) and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Davies & Aurora, 2019). Because of the mutation in the CFTR gene, there is dysfunction of chloride ion transportation across the epithelial cells. These epithelial cells line the respiratory and digestive tracts and exhibit defective chloride secretion and excess sodium absorption. Both contribute to viscous mucous and promote inflammation which cause the respiratory and gastrointestinal clinical manifestations. Additionally, impaired immune cell responses are instrumental to lung disease severity (Ideozu, Rangaraj, Abdala-Valencia, Zhang, Kandpal, Sala, Davuluri, & Levy, 2019).
The 6-month-old female presented as such because gastrointestinal manifestations often proceed pulmonary symptoms (McCance & Huether, 2019). The baby’s colic, crying episodes after eating, and swollen belly can all be symptomology (physiologic response) related to gastroesophageal reflux, inflammation, abdominal distention, distal intestinal obstruction, bacterial overgrowth, slow transit time, or inflammatory bowel disease caused by secretory dysfunction of the malfunctioning epithelial cells of the intestines and bowel (De Freitas, Moreira, Tomio, Moreno, Daltoe, Barbosa, Neto, Buccigrossi, & Guarino, 2018). The lack of weight gain despite good appetite could be attributable to pancreatic insufficiency which causes nutrient malabsorption and failure to thrive often present in children with CF (McCance & Huether, 2019). The mother’s perception that the baby tastes “salty” is reflective of the CFTR ineffectively moving salt in the body. The salt travels to the skin’s surface and is not reabsorbed.
As it pertains to the mother’s question of having more children, CF is an autosomal recessive disease. This entails the disease often seen in siblings but not parents; equal proportions of males and females affected; and on average, one-fourth of offspring of carrier parents affected (McCance & Huether, 2019). Given that information and recommendation for genetic counseling, the parents can make an informed decision whether or not to have more children. Furthermore, given the son’s ongoing respiratory problems, he should be tested for CFTR mutation and genotyping as well as the measurement of sweat chloride concentration as CF occurs equally in males and females (Sosnay, Salinas, White, Ren, Farrell, Raraigh, Girodon, & Castellani, 2017). Further gender considerations would include inquiry into her daughter’s diet as girls with CF have more difficulty meeting growth requirements. Exclusively breastfed babies receive metabolites that provide protection against intestinal inflammation (De Freitas et al., 2018).
References
Davies, G., & Aurora, P. (2019). A simple screening test for cystic fibrosis? Indian
Pediatrics, 56(2), 105–106.
De Freitas, M. B., Moreira, E. A. M., Tomio, C., Moreno, Y. M. F., Daltoe, F. P., Barbosa, E.,
Neto, N. L., Buccigrossi, V., & Guarino, A. (2018). Altered intestinal microbiota
composition, antibiotic therapy and intestinal inflammation in children and adolescents
with cystic fibrosis. Plos One, 13(6), e0198457. Retrieved form
https://doi-org.ezp.waldenulibrary.org/10.1371/journal.pone.0198457
Ideozu, J. E., Rangaraj, V., Abdala-Valencia, H., Zhang, X., Kandpal, M., Sala, M. A., Davuluri,
R. V., & Levy, H. (2019). Transcriptional consequences of impaired immune cell
responses induced by cystic fibrosis plasma characterized via dual RNA
sequencing. BMC Medical Genomics, 12(1), 66. Retrieved from
https://doi-org.ezp.waldenulibrary.org/10.1186/s12920-019-0529-0
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in
adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Sosnay, P. R., Salinas, D. B., White, T. B., Ren, C. L., Farrell, P. M., Raraigh, K. S., Girodon, E.,
& Castellani, C. (2017). Applying cystic fibrosis transmembrane conductance
regulator genetics and CFTR2 data to facilitate diagnoses. The Journal of
Pediatrics, 181S, S27–S32.e1. Retrieved from
https://doi-org.ezp.waldenulibrary.org/10.1016/j.jpeds.2016.09.063
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