Alterations in Cellular Processes

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. Alterations in Cellular Processes

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The role genetics plays in the disease.

            Cystic Fibrosis (CF) is a pulmonary disease caused as a result of a genetic mutation. According to Shelby et al, CF is the most frequent hereditary pulmonary disease with a prevalence of “1 in 2,500 newborns and a carrier frequency of 1 in 25 in the Caucasian population” (2021). CF has an autosomal recessive inheritance meaning that the disease was caused as a result of two inherited mutated genes. Typically, this happens when the mutated genes are passed from two parents who are carriers. CF is caused by a mutation on the CF transmembrane conductance regulator (CFTR) protein (Pagin et al., 2020). The CFTR protein is a chloride channel that is present on several types of epithelial cells (McCance & Huether, 2019). Normally, the CFTR protein would form a channel to transport chloride to different membranes of cellular surfaces in the body. However, in CF patients, the chloride is trapped within the cells causing improper hydration of the cell’s surface. Diagnosis of cystic fibrosis can be confirmed through genetic screening and a sweat test. Alterations in Cellular Processes

Why the patient is presenting with the specific symptoms described.

            The specific symptoms presented in the above scenario are classic signs of cystic fibrosis. The baby presents with “salty” tasting skin. This occurs as a result of the baby’s excess of sodium absorption. The baby’s body is unable to move chloride to the surface of cells and as a result, salt is excreted through exocrine glands. The baby also presents with abdominal distention/bloating at times. Gastrointestional (GI) symptoms are very common in CF patients due to the excess mucous production blocking the pancreatic duct from digesting foods and absorbing nutrients properly. With pancreatic insufficiency, it’s common to see malabsorption and issues like failure to thrive with CF patients.  The treatment goal would involve lessening the child’s malabsorption and increasing growth. A high-caloric, high-protein diet and vitamin supplementation would be most beneficial (McCance & Huether, 2019, p.1380).  In addition, CF causes an increase in energy demand due to its nature in general. This would also explain the growth delay.  The mother’s other child has had multiple episodes of chest congestion which is very common to see in cystic fibrosis due to the genetic mutation of the CFTR protein and its inability to sufficiently attract fluids in order to hydrate the cell’s surface. As a result, the body’s production of mucous has a thick and sticky consistency. It is possible that this child may also be suffering from CF.

 The physiologic response to the stimulus presented in the scenario and why you think this response occurred.

The baby presented with colic-like symptoms of “crying after eating” and a “swollen belly.” This may possibly be due to a condition known as distal intestinal obstruction syndrome (DIOS). DIOS is a condition where the body’s small intestines become obstructed due to thickened stools and is commonly seen with CF patients (McCance & Huether, 2019, p.1380).  Symptoms include abdominal pain and distension which would explain the baby’s discomfort and distended abdomen after eating. Furthermore, malabsorption of fats can be seen with CF. When fats are not absorbed properly, excess gas and abdominal discomfort can occur.Alterations in Cellular Processes  

The cells that are involved in this process.

Cystic Fibrosis disrupts the normal function of epithelial cells.  Epithelial cells can be found “lining airways, bile ducts, the pancreas, sweat ducts, paranasal sinuses, and the vas deferens” (McCance & Huether, 2019, p.1220). This is why cystic fibrosis is considered a multiorgan disease affecting the airways/lungs, digestive tract, and reproductive organs.

How another characteristic (e.g., gender, genetics) would change your response

Despite gender, the symptoms that present with CF can occur with either sex. CF equally occurs with both men and women. With both males and females, delayed puberty, sterility in males and decreased fertility is females is seen (McCance & Huether, 2019, p.1381). Furthermore, the child is 6 months old. The median age of diagnosis of CF is 4 months (McCance & Huether, 2019, p.1220).

References

Elena-Silvia Shelby, Florina Mihaela Nedelea, Tanser Huseyinoglu, Relu Cocos, Mihaela Badina, Corina Sporea, Liliana Padure, & Andrada Mirea. (2021). Innovative Therapies in Genetic Diseases: Cystic Fibrosis. Revista Romana de Pediatrie, 70(1), 16–20. https://doi-org.ezp.waldenulibrary.org/10.37897/RJP.2021.1.3

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

Pagin, A., Sermet-Gaudelus, I., & Burgel, P.-R. (2020). Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders. Archives de Pédiatrie, 27(Supplement 1), S25–S29. https://doi-org.ezp.waldenulibrary.org/10.1016/S0929-693X(20)30047-6 Alterations in Cellular Processes

Discussion: Alterations in Cellular Processes

By Day 3 of Week 1

response 1

Hi xxx in addition to your statement that “cystic fibrosis is considered a multi organ disease affecting the airways/lungs, digestive tract, and reproductive organs

discussion”. This is  because  of their partial cystic fibrosis transmembrane conductance regulator( CFTR) and dysfunction progressive lung disease is unfortunately

common (Farrell et al ,2020). Pulmonary disease remains of the major causes of morbidity and mortality in cystic fibrosis .Where people that are affected have lower

airway inflammation , chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage and fibrosis of lung

parenchyma (Moskowitz et al, 2008). Males population usually account for more than 50% of cystic fibrosis cases than women and male also have  a better outcome than

females from when they are born until 20 years (Harness-Brumley et al., 2014).After this, both males, and females have equal outcomes, but males with cystic fibrosis

tend to live an average of two years longer than females.

References
Farrell, P. M., Rock, M. J., & Baker, M. W. (2020). The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy. Genes, 11(4),

401. https://doi.org/10.3390/genes11040401.

Harness-Brumley, C. L., Elliott, A. C., Rosenbluth, D. B.,Raghavan, D., & Jain, R. (2014). Gender differences in outcomes of patients with cystic fibrosis. Journal of

Women’s.

Moskowitz, S. M., Chmiel, J. F., Sternen, D. L., Cheng, E., Gibson, R. L., Marshall, S. G., & Cutting, G. R. (2008). Clinical practice and genetic counseling for cystic

fibrosis and CFTR-related disorders. Genetics in medicine : official journal of the American College of Medical Genetics, 10(12), 851–868.

https://doi.org/10.1097/GIM.0b013e31818e55a2

Response 2

I noticed the race of the mother and child was not given and seeing as how she wanted to know if she should have another child, it is certainly a risk, as you pointed out, if the mother and child are Caucasian. Much less so if they are African American as it only affects 1 out of 17,000 Black Americans (Zakhary et al., 2015) and it is even less common for Asian Americans (National Heart, Lung, and Blood Institute, 2018). I am going to guess that they are Caucasian however, given that how rare it is in other ethnicities and how difficult a concrete diagnosis can be in Black Americans, with only 50% of cystic fibrosis transmembrane regulator (CFTR) mutations that cause the disease being discovered (Zakhary et al., 2015). While not as common in Hispanic people, it is more common with them than with Black and Asian Americans and is becoming more prevalent with 1 in 46 Hispanic people being a carrier of the CFTR mutation (How Common Is Cystic Fibrosis?, 2019) so that is a possibility too. Alterations in Cellular Processes

References

How Common Is Cystic Fibrosis? (2019). Cystic-Fibrosis.com. https://cystic-fibrosis.com/statistics

‌National Heart, Lung, and Blood Institute. (2018, May 22). Cystic Fibrosis. Nih.gov. https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

Zakhary, S. M., Torres, G., Hobeika, P., & Hikin, D. (2015). Adult-onset cystic fibrosis in an African-American male. Radiology Case Reports, 6(3). https://doi.org/10.2484/rcr.v6i3.500 Alterations in Cellular Processes