Discussion: Alterations in Cellular Processes

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Discussion: Alterations in Cellular Processes

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

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