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
response
Your post with very informative. I enjoyed reading the information. I didn’t get off to a great start with my posting, so this was very refreshing to read.
The thorough explanation you provided regarding the symptoms for 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 was more relatable than other explanations (De Freitas, et al., 2018). It is sad that the outcome for these patients are not more optimistic with further advancement from our healthcare researchers over the years. But despite a complex treatment, chronic airway obstruction and infection usually lead to respiratory insufficiency and premature death (De Boeck, Bulteel, & Fajac, 2016). The brother more than likely should be tested due to the respiratory symptoms that indicate concern for cystic fibrosis including persistent cough or wheeze, excessive sputum production, and recurrent or severe pneumonia (McCance & Huether, 2019).
We have a family friend with cystic fibrosis that has chosen not to have children due to her health condition. Her siblings were later tested and positive carrier, so her sister did IVF. They did genetic testing of the embryos prior to implantation.
My only suggestion in the future is to use the headings for separation of the information. It helps clarify the material being presented. Overall, your post is great and thanks for helping me get a better understanding of the application.
Best of luck this quarter!
Lindy
References
De Boeck, K., Bulteel, V., & Fajac, I. (2016). Disease-specific clinical trials networks: the example of cystic fibrosis. European Journal of Pediatrics. 175:817-824.
DOI:10.1007/s00431-016-2712-z
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
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier
Discussion: Alterations in Cellular Processes
Photo Credit: Getty Images
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.
To prepare:
- By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
By Day 3 of Week 1
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
- The role genetics plays in the disease.
- Why the patient is presenting with the specific symptoms described.
- The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
- The cells that are involved in this process.
- How another characteristic (e.g., gender, genetics) would change your response.
Read a selection of your colleagues’ responses.
By Day 6 of Week 1
Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
Note: For this Discussion, you are required to complete your initial post before you will be able to view and respond to your colleagues’ postings. Begin by clicking on the “Post to Discussion Question” link and then select “Create Thread” to complete your initial post. Remember, once you click on Submit, you cannot delete or edit your own posts, and you cannot post anonymously. Please check your post carefully before clicking on Submit!
NURS_6501_Discussion_Rubric
Excellent Good Fair Poor Main Posting Supported by at least three current, credible sources.
Written clearly and concisely with no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
At least 75% of post has exceptional depth and breadth.
Supported by at least three credible sources.
Written clearly and concisely with one or no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
One or two criteria are not addressed or are superficially addressed.
Is somewhat lacking reflection and critical analysis and synthesis.
Somewhat represents knowledge gained from the course readings for the module.
Post is cited with two credible sources.
Written somewhat concisely; may contain more than two spelling or grammatical errors.
Contains some APA formatting errors.
Lacks depth or superficially addresses criteria.
Lacks reflection and critical analysis and synthesis.
Does not represent knowledge gained from the course readings for the module.
Contains only one or no credible sources.
Not written clearly or concisely.
Contains more than two spelling or grammatical errors.
Does not adhere to current APA manual writing rules and style.
Main Post: Timeliness First Response Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Second Response Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Participation
Total Points: 100 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