Cystic fibrosis Alterations in Cellular Processes

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).


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

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

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


Place your order
(550 words)

Approximate price: $22

Calculate the price of your order

550 words
We'll send you the first draft for approval by September 11, 2018 at 10:52 AM
Total price:
The price is based on these factors:
Academic level
Number of pages
Basic features
  • Free title page and bibliography
  • Unlimited revisions
  • Plagiarism-free guarantee
  • Money-back guarantee
  • 24/7 support
On-demand options
  • Writer’s samples
  • Part-by-part delivery
  • Overnight delivery
  • Copies of used sources
  • Expert Proofreading
Paper format
  • 275 words per page
  • 12 pt Arial/Times New Roman
  • Double line spacing
  • Any citation style (APA, MLA, Chicago/Turabian, Harvard)

Our Guarantees

Money-back Guarantee

You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.

Read more

Zero-plagiarism Guarantee

Each paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.

Read more

Free-revision Policy

Thanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.

Read more

Privacy Policy

Your email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.

Read more

Fair-cooperation Guarantee

By sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.

Read more