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Presentation/PPT
27/08/2022
Genetics can play a role in malabsorption syndrome if the malabsorption is secondary to a genetic disease. Genetic disorders like Celiac or Congenital Short Bowel Syndrome(CSBS) can play a role due to their impairment of how certain foods are processed(Werf, Halim, Verheij, Alves, & Hofstra, 2015).
The patient is presenting with her specific symptoms due to protein deficiencies. Protein(Albumin)prevents fluid from moving into the interstitium(edema). Protein deficiencies can also cause a reduction inintestinal mucosal mass which in turn decreases absorbtive function. In other words, her body can not properly absorbs protein or keep it in the correct place.
Several factors led to her physiologic response including a history of malabsorption syndrome and lack of dentures. A history of malabsorption syndrome most likely indicates a genetic component or sequalae of another trauma/disease even though it was not outlined in this case study.
Proteins are the major structural units of the cell and participate in enzymatic and hormonal functions. In a protein deficient patients, the lack of protein is both intracellular and extracellular which leads to a greater level of dysfunction. The specific cells that are involved are Ribosomes and Endoplasmic Reticulum.
Genetically, my response would change if I knew she had a history of Celiac disease or another genetic disorder because that would tell me how to correct the imbalance nutritionally after treating her acute processes with Albumin infusions. A question I would include in my health history would be if she underwent bariatric surgery. I do not believe gender plays a role in the treatment of this patient.
References:
McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2019). Chapter 2. In Pathophysiology: The biologic basis for disease in adults and children (8th ed., p. 75). St. Louis, MO: Elsevier.
Ruiz, A. (2019, October). Overview of Malabsorption – Gastrointestinal Disorders. Retrieved September 03, 2020, from https://www.merckmanuals.com/professional/gastrointestinal-disorders/malabsorption-syndromes/overview-of-malabsorption
Werf, C., Halim, D., Verheij, J., Alves, M., & Hofstra, R. (2015, August 15). Congenital Short Bowel Syndrome: From clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. Retrieved September 03, 2020, from https://www.sciencedirect.com/science/article/pii/S0925443915002288
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