Posted: September 2nd, 2022

Pathophysiology cystic fibrosis

Pathophysiology cystic fibrosis
The selected disorder is cystic fibrosis and the patient factor is genetic. It is an inherited condition that leads to severe damage to the lungs as well as the digestive system (Hammer & McPhee, 2019). The disorder is a result of mucus secretion by the body that clogs the lungs and the pancreas. According to Huether and McCance (2017), the first symptom of the disorder is a salty sweat as a result of the complications in the body. The scenario is a woman who has a 10-year-old girl. The child has experienced retarded growth over the last two years. The child frequently has a salty sweat which is abnormal compared to other children of her age.
The genetic factor has an impact on the disorder since it is a recessive condition that occurs as a result of defects in the CFTR gene (Brown, White & Tobin, 2017). The gene encodes a protein responsible for regulating the flow of ions across the surface of epithelial cells. McCague et al. (2019) indicate that the defects in the gene result in an unregulated flow of the ions and finally result in the production of mucus that clogs the lungs and other parts of the body. It also results in a salty sweat since the salt and water in the body are not properly regulated.
The condition leads to changes in the cellular functions since it causes defects in the cells that secrete water, salt, and mucus (Haq, Gray, Garnett, Ward & Brodlie, 2016). The role of epithelial cells is to produce a thin and watery mucus responsible for protecting the cells. However, for people with defects in the CFTR genes, the thick mucus clogs the airways. It is important for a person to seek early treatment since the condition can get worse and life-threatening.

References
Brown, S. D., White, R., & Tobin, P. (2017). Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. Journal of the American Academy of PAs, 30(5), 23-27.
Haq, I. J., Gray, M. A., Garnett, J. P., Ward, C., & Brodlie, M. (2016). Airway surface liquid homeostasis in cystic fibrosis: pathophysiology and therapeutic targets. Thorax, 71(3), 284-287.
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.
Hammer, G. D., & McPhee, S. J. (2019). Pathophysiology of disease: An introduction to clinical medicine (8th ed.). New York, NY: McGraw-Hill Education.
McCague, A. F., Raraigh, K. S., Pellicore, M. J., Davis-Marcisak, E. F., Evans, T. A., Han, S. T., … & Collaco, J. M. (2019). Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis. American Journal of Respiratory and Critical Care Medicine, 199(9), 1116-1126.

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