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).

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.walde

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