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Advanced Pathophysiology Week 2 Assignment Walden University NURS-6501N- Mary Smith, PhD(c), DNP, FNP-BC, FAANP
The patient in this case study is reporting experiencing symptoms such as abdominal pain, cramping, mucus in the stool, weight loss, and increased fatigue, which combined are suggestive of inflammatory bowel disease. After considering his brother's diagnosis of Crohn's disease, it is plausible that the patient may also have Crohn's disease. Crohn's disease is classified as a persistent condition characterized by inflammation in the gastrointestinal tract. The normal B12 levels and negative stool testing have ruled out specific potential causes of his symptoms, such as bacterial infections or malabsorption syndromes (Kumar et al., 2022). Also, an elevated Erythrocyte Sedimentation Rate (ESR) serves as a nonspecific marker of inflammation in the body, further supporting the potential diagnosis of Crohn's. The development of Crohn's disease is influenced by various genetic factors, with a primary association observed in genes responsible for regulating and responding to the immune system. One significant gene linked to Crohn's disease is NOD2 (Nucleotide-binding Oligomerization Domain 2), also known as the CARD15 gene (Seyedian et al., 2019). Mutations in NOD2 increase the risk of Crohn's disease by affecting the immune response, particularly in recognizing and responding to bacterial components (Cushing & Higgins, 2021). Individuals with a family history of Crohn's disease face an elevated risk due to genetic predisposition, although environmental factors also contribute to the condition's onset (Kumar et al., 2022). Another gene associated with Crohn's disease is ATG16L1, which is involved in the autophagy process crucial for clearing intracellular pathogens. Mutations in ATG16L1 can impact the autophagic response, contributing to the development of Crohn's disease. It is essential to recognize that while these genetic factors contribute to susceptibility, they do not solely determine the condition. The interplay of environmental factors, the gut microbiome, and additional genetic factors collectively contribute to Crohn's disease's overall risk and manifestation (Kumar et al., 2022). Ongoing research may uncover further insights into the genetic aspects of this complex condition.
Reference Cushing, K. C., & Higgins, P. (2021). Management of Crohn disease. JAMA , 325 (1), 69. https://doi.org/10.1001/jama.2020. Kumar, A., Cole, A. J., Segal, J., Smith, P. J., & Limdi, J. K. (2022). A review of the therapeutic management of Crohn’s disease. Therapeutic Advances in Gastroenterology , 15 ,