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NURS 6501 Discussion :Factors That Influence Disease

NURS 6501 Discussion :Factors That Influence Disease

To understand genetic diseases, a healthcare provider needs to explain the disease process down to the cellular level. Cystic Fibrosis is a genetic disorder causing thickened secretions in the pulmonary and digestive organs by a mutation in the cystic fibrosis (CF) transmembrane regulator gene (McCance & Huether, 2019). The purpose of this discussion is to explain the disease process of cystic fibrosis at the cellular level and describe factors that influence disease.

Genetic Role in Cystic Fibrosis

Cystic Fibrosis is a rare, inherited disorder from two recessive trait parents. Because of the recessive trait, the child has a 25% chance of being affected with a genetic disorder but a 50% chance of being an actual carrier. CF is an autosomal recessive inherited disease resulting from mutations in the CF transmembrane conductance regulator (CFTR) gene, chromosome seven (Wilbert et al., 2021). It is common to see CF in siblings, but parents do not have the disease (McCance & Huether, 2019).

Explanation of Presented CF Symptoms

The six-month-old female child presented with possible colic and had a history of eating well, but crying shortly after, swollen abdomen, and skin had a salty taste. Even though the child is eating, she is not gaining weight showing an early indication of a failure to thrive. Cystic Fibrosis is a multi-organ disease that affects the respiratory system, digestive tract, reproductive organs, sweat glands and presents physical characteristics like digital clubbing and barrel chest (McCance & Huether, 2019). As a result of the mutation of the CFTR gene, dehydration occurs, and secretions thicken within the affected organs leading to mucus plugging and plaques (Rout-Pitt et al., 2018). CF mucus is viscous and dehydrated due to defective chloride secretion and abundant sodium absorption, giving the child’s skin a salty taste when giving the child kisses (McCance & Huether, 2019).

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Physiologic Response to Stimulus and Why Response Occurred

The physiologic response of episodic crying and swollen abdomen after eating is the fibrotic response to the digestive tract. The thickening of secretions on the surface of the epithelial cells lining the digestive tract, bile ducts, and pancreas leads to other complications like gastroesophageal reflux disease. Symptoms of heartburn and regurgitation cause irritation in the esophageal mucosa, which can affect the course of pulmonary disease in CF, and it approximately affects up to 66% of CF children (DZIEKIEWICZ et al., 2021).

NURS 6501 Discussion :Factors That Influence Disease

The baby is also not gaining weight even though the baby has a good appetite. CF children have an increased risk for malabsorption. Pancreatic insufficiency requires parents of CF children to provide good nutrition with pancreatic enzyme replacement therapy and a high-fat diet (Dhochak et al., 2019). The colic and swollen abdomen response are related to the baby’s inability to digest her food properly, causing abdominal pain.

Cells Involved in Process

Cells involved with cystic fibrosis are the CF gene or chromosome seven, resulting from defective epithelial chloride ion transport by the cystic fibrosis transmembrane conductance regulator (CFTCR) protein (McCance & Huether, 2019). When the chloride ions are disrupted, there is an increase in sodium and water absorption, resulting in abnormally viscid exocrine gland secretions (DZIEKIEWICZ et al., 2021).

How Another Characteristic Would Change Your Response

The mother questions if she should have more children. The advisement of continuing a family requires further genetic counseling for additional options with family planning. The 23-month-old son also exhibits signs of cystic fibrosis and would be recommended to have further testing done to determine if the son has CF. According to the American College of Obstetricians and Gynecologists, it is recommended all women, especially with a child with a genetic disorder, be offered carrier screening and additional testing based on race and ethnicity (Norton & Chard, 2019). If the carrier screening were positive for the female, then it would be highly recommended for the male to be tested to decrease the chances of the fetus acquiring the CF gene mutation. Ethnicity other than European or white is much less likely to be carriers of the CF gene mutation.\

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Dhochak, N., Jat, K. R., Sankar, J., Lodha, R., & Kabra, S. K. (2019). Predictors of malnutrition in children with cystic fibrosis. Indian Pediatrics, 56(10), 825–830.

DZIEKIEWICZ, M., MIELUS, M., LISOWSKA, A., WALKOWIAK, J., SANDS, D., RADZIKOWSKI, A., & BANASZKIEWICZ, A. (2021). Effect of omeprazole on symptoms of gastroesophageal reflux disease in children with cystic fibrosis. A randomized, double-blind, placebo-controlled trial. European Review for Medical & Pharmacological Sciences, 25(2), 999–1005.

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). Mosby.

Norton, M. E., & Chard, R. L. (2019). New tools for counseling on prenatal genetic testing. Contemporary OB/GYN, 64(2), 15–23.

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). https://doi.org/10.1186/s12931-018-0834-8

Wilbert, F., Grünert, S. C., Heinzmann, A., & Bode, S. N. (2021). Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report. BMC Pediatrics, 21(1). https://doi.org/10.1186/s12887-021-02636-w

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