Week 1 Discussion: Alterations in Cellular Processes Sample Paper

NURS-6501 week 1 Discussion: Alterations in Cellular Processes Sample Paper 1

Week 1 Discussion: Alterations in Cellular Processes Sample Paper

Explaining cystic fibrosis (CF) to the mother would include an overview of the disease itself including its presentation and explanation of the symptomology as well as an explanation of its pathophysiology.  The explanation would include the fact that cystic fibrosis is one of the most common autosomal recessive diseases in Caucasian populations (if patient noted as Caucasian) and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Davies & Aurora, 2019).  Because of the mutation in the CFTR gene, there is dysfunction of chloride ion transportation across the epithelial cells.  These epithelial cells line the respiratory and digestive tracts and exhibit defective chloride secretion and excess sodium absorption.  Both contribute to viscous mucous and promote inflammation which cause the respiratory and gastrointestinal clinical manifestations.  Additionally, impaired immune cell responses are instrumental to lung disease severity (Ideozu, Rangaraj, Abdala-Valencia, Zhang, Kandpal, Sala, Davuluri, & Levy, 2019).

The 6-month-old female presented as such because gastrointestinal manifestations often proceed pulmonary symptoms (McCance & Huether, 2019).  The baby’s colic, crying episodes after eating, and swollen belly can all be symptomology (physiologic response) related to gastroesophageal reflux, inflammation, abdominal distention, distal intestinal obstruction, bacterial overgrowth, slow transit time, or inflammatory bowel disease caused by secretory dysfunction of the malfunctioning epithelial cells of the intestines and bowel (De Freitas, Moreira, Tomio, Moreno, Daltoe, Barbosa, Neto, Buccigrossi, & Guarino, 2018).  The lack of weight gain despite good appetite could be attributable to pancreatic insufficiency which causes nutrient malabsorption and failure to thrive often present in children with CF (McCance & Huether, 2019).  The mother’s perception that the baby tastes “salty” is reflective of the CFTR ineffectively moving salt in the body.  The salt travels to the skin’s surface and is not reabsorbed.

As it pertains to the mother’s question of having more children, CF is an autosomal recessive disease.  This entails the disease often seen in siblings but not parents; equal proportions of males and females affected; and on average, one-fourth of offspring of carrier parents affected (McCance & Huether, 2019).  Given that information and recommendation for genetic counseling, the parents can make an informed decision whether or not to have more children.  Furthermore, given the son’s ongoing respiratory problems, he should be tested for CFTR mutation and genotyping as well as the measurement of sweat chloride concentration as CF occurs equally in males and females (Sosnay, Salinas, White, Ren, Farrell, Raraigh, Girodon, & Castellani, 2017).  Further gender considerations would include inquiry into her daughter’s diet as girls with CF have more difficulty meeting growth requirements.  Exclusively breastfed babies receive metabolites that provide protection against intestinal inflammation (De Freitas et al., 2018).

References

Davies, G., & Aurora, P. (2019). A simple screening test for cystic fibrosis? Indian 

Pediatrics, 56(2), 105–106.

De Freitas, M. B., Moreira, E. A. M., Tomio, C., Moreno, Y. M. F., Daltoe, F. P., Barbosa, E.,

Neto, N. L., Buccigrossi, V., & Guarino, A. (2018). Altered intestinal microbiota

composition, antibiotic therapy and intestinal inflammation in children and adolescents

with cystic fibrosis. Plos One, 13(6), e0198457. Retrieved form

https://doi-org.ezp.waldenulibrary.org/10.1371/journal.pone.0198457

Ideozu, J. E., Rangaraj, V., Abdala-Valencia, H., Zhang, X., Kandpal, M., Sala, M. A., Davuluri,

R. V., & Levy, H. (2019). Transcriptional consequences of impaired immune cell

responses induced by cystic fibrosis plasma characterized via dual RNA

sequencing. BMC Medical Genomics, 12(1), 66. Retrieved from

https://doi-org.ezp.waldenulibrary.org/10.1186/s12920-019-0529-0

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in 

adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Sosnay, P. R., Salinas, D. B., White, T. B., Ren, C. L., Farrell, P. M., Raraigh, K. S., Girodon, E.,

& Castellani, C. (2017). Applying cystic fibrosis transmembrane conductance

regulator genetics and CFTR2 data to facilitate diagnoses. The Journal of

Pediatrics, 181S, S27–S32.e1.  Retrieved from

https://doi-org.ezp.waldenulibrary.org/10.1016/j.jpeds.2016.09.063

NURS-6501 week 1 Discussion: Alterations in Cellular Processes Sample Paper 2

Cystic Fibrosis (CF) is an autosomal recessive inherited disorder arising from a defective protein called cystic fibrosis transmembrane conductance regulator (CFTR) which disrupts the normal function of epithelial cells that line the passageways of the respiratory, digestive and reproductive organs (McCance and Huether, 2019). The CF gene is passed down by both parents and is found on chromosome 7 (McCance and Huether, 2019). The CFTR regulates the concentration of sodium, chloride, and water that passes across cell membranes. Sodium and chloride regulate the amount of mucus that coats the linings of the affected organs.

In a case with CF, CFTR insufficiency results in the interference of chloride secretion, sodium reabsorption, and water transport thus causing the body to produce viscous mucus and mucociliary dysfunction (Turcios, 2020).

CF is common among European culture. According to Turcois (2020), studies show that CF is more prevalent among whites with a 1 in 2,500 chances of the child inheriting the CF gene, however, all ethnicities are not immune to it.

In the scenario, the mother is concerned that her 6-month- old has intermittent abdominal distention, cries every so often after eating and does not gain weight despite having a good appetite. The reason is that the buildup of mucus in the pancreas leads to insufficient production of pancreatic enzymes which disrupts the absorption of proteins, fats and fat-soluble vitamins (A, D, E, K) which are needed for proper growth (McCance and Huether, 2019).  It is essential to educate the mother to adhere to proper nutrition and initiate the intake of pancreatic enzyme replacement therapy to counteract the malabsorption (Kulkami, Kansra, & Karande, 2019).

Since CF also affects the sweat glands, the CFTR disrupts the balanced excretion of sodium and chloride causing the buildup of sodium and water traveling to the skin surface which is why babies tend to taste salty (Kulkami, Kansra, & Karande, 2019).

As for the 23-month-old, the insufficient CFTR in the epithelial linings of the lungs produces thick and sticky mucus trapping pathogens such as bacteria, viruses and fungi that do not clear out as it should causing patients to have recurrent lung infections and inflammation (McCance and Huether, 2019).  Respiratory symptoms are likely to appear more in older infants than newborns (Turcios, 2020). Therefore, the mother should have her child tested for possible CF.

The mother also inquired about having more children.  The chance of a family member having a hereditary disorder is called recurrence risk (McCance and Huether, 2019). CF is an autosomal recessive disorder, meaning an individual inherits 1 copy of the defected gene from each parent (Kulkami, Kansra, & Karande, 2019).  Since both parents are carriers of the defective gene, they have 1 in 4 chances that their child may inherit CF, 1 in 2 chances that the child will be a carrier and 1 in 4 chances that the child will not be a carrier.

References

Kulkarni, H., Kansra, S., & Karande, S. (2019). Cystic fibrosis revisited. Journal of Postgraduate Medicine, 65(4), 193–196. https://doi-org.ezp.waldenulibrary.org/10.4103/jpgm.JPGM_263_18

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

Turcios, N. L. (2020). Cystic Fibrosis Lung Disease: An Overview. Respiratory Care, 65(2), 233–251. https://doi-org.ezp.waldenulibrary.org/10.4187/respcare.06697

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