Module 1 Assignment: Case Study Analysis
An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.
Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.
An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factored in the diagnosis, and you explain the implications to patient health.
The Assignment (1- to 2-page case study analysis)
Develop a 1- to 2-page case study analysis in which you:
- Explain why you think the patient presented the symptoms described.
- Identify the genes that may be associated with the development of the disease.
- Explain the process of immunosuppression and the effect it has on body systems.
Scenario 2: 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.
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Case Study Analysis
Why the Patient Presented the Described Symptoms?
The child in the case study has been diagnosed with cystic fibrosis. She presented with symptoms that include failure to thrive, episodes of crying after eating, swollen abdomen, and tasting salty when kissed by the mother. The baby presented with the above symptoms due to the involvement of the pancreas in cystic fibrosis. According, cystic fibrosis causes the deficiency of enzymes needed for food breakdown, limiting food absorption. The absence of pancreatic enzymes leads to mal-absorption of nutrients and indigestion leading to the development of symptoms such as stomach discomfort and failure to thrive in the client. The child manifests with symptoms such as crying after eating, lack of weight gain and abdominal distention. There is also the dysfunction of the sodium and chloride channels in the body due to cystic fibrosis. The dysfunction leads to an increase in the deposition of sodium and chloride on the skin, hence, the salty taste on the skin when the mother kisses her child. Evidence further shows that cystic fibrosis causes thickening of the mucus in the respiratory system, especially the lungs (Cutting et al., 2019; De Boeck, 2020). The effect of the thickening of the mucus includes obstruction of the respiratory system and patients experiencing episodes of chest congestions.
Genes Associated with the Development of the Disease
Genetics play a critical role in the development of cystic fibrosis. The mutations of the CFTR gene cause cystic fibrosis. CFTR gene plays the roles of providing instructions needed for making channel transport of negatively charged sodium and chloride ions. The mutations of this gene often lead to the impairment of the functioning of the chloride channels, affecting the movement of water and chloride across the cell membranes. The consequence of the alteration is the production of unusually sticky and thick mucus in body organs such as the lungs and pancreas. The sticky mucus ends clogging the airways and different ducts in the body to cause the signs and symptoms of cystic fibrosis (De Boeck, 2020). Cystic fibrosis is an autosomal recessive with expression that depends largely on the homozygous nature of its expression in an individual. The person should express the two genes (mutations) of cystic fibrosis for them to develop the symptoms of the disorder. For example, children born to parents with one gene mutation of cystic fibrosis are increasingly predisposed to the disorder due to its inheritability nature. In this case, each of the parents has the potential of transferring the gene mutation to the child, leading to the offspring expressing the symptoms of cystic fibrosis. In addition, there is 25% chance that individuals that are heterozygous carriers of cystic fibrosis genes will give birth to a child with the disorder. Further, the entire generation will have cystic fibrosis if parents who are phenotypes of cystic fibrosis marry each other, as the mutant gene will be transferred to the offspring (Cutting et al., 2019).
Process of Immunosuppression and its Effect on the Body Systems
Immunosuppression is a process characterized by the weakening of the body’s ability to defend itself. Immunosuppression may be associated with conditions such as HIV/AIDS and cancer or treatments including radiation, chemotherapy, organ transplant, and overuse of corticosteroids. The administration or exposure to immunosuppressant agents lowers the immune ability of the body predisposing patients to secondary infections. Immunosuppression also worsens the outcomes and severity of infections (Handley & Hand, 2021). As a result, the risk of mortality is high due to the weakened nature of the immune system.
Cutting, G. R., Engelhardt, J., & Zeitlin, P. L. (2019). 49—Genetics and Pathophysiology of Cystic Fibrosis. In R. W. Wilmott, R. Deterding, A. Li, F. Ratjen, P. Sly, H. J. Zar, & A. Bush (Eds.), Kendig’s Disorders of the Respiratory Tract in Children (Ninth Edition) (pp. 757-768.e6). Elsevier. https://doi.org/10.1016/B978-0-323-44887-1.00049-3
De Boeck, K. (2020). Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatrica, 109(5), 893–899. https://doi.org/10.1111/apa.15155
Handley, G., & Hand, J. (2021). Adverse Effects of Immunosuppression: Infections (pp. 1–28). Springer. https://doi.org/10.1007/164_2021_550