Week 1
I evaluated a situation in which a pediatric patient was diagnosed with cystic fibrosis. The 6-month-old was noted as having belly edema following feedings, slow weight gain, and salty skin. Additionally, the scenario included information on a sibling’s history of respiratory difficulties and hospitalizations.
Genetics
Cystic fibrosis is genuinely a hereditary disease that manifests only when both parents are carriers. Cystic fibrosis is an autosomal recessive disease that requires each parent to inherit two mutant transmembrane conductance regulator or (CFTR) delta F508 genes. Miller et al. This expression indicates that both parents are heterozygous for cystic fibrosis and that their offspring have a 25% probability of acquiring the condition. Consanguinity or offspring from related individuals is frequently a role in recessive illnesses. 2020 (Huether & McCance) Interestingly, this infant’s parents may be related or may have shared a parent who was a carrier.
Symptoms
The patient appears with stomach pain, distention, and a history of inadequate weight gain. The infant’s digestive tract and pancreatic ducts were most likely clogged with thick mucus. According to Afloarei (2020), mucus buildup in the pancreas limits the entry of digestive enzymes into the digestive tract and inhibits fat digestion. This would account for the patient’s lack of weight gain. According to Yap et al. (2014), 20% of individuals with cystic fibrosis present with a newborn intestinal blockage caused by meconium bowel obstructions or volvulus-induced ischemia. This meconium may have moved slowly through the infant’s bowels until it encountered a twist or loop. A meconium bowel blockage is quite harmful. According to Afloarei (2020), this sort of bowel obstruction may result in intestinal perforation and septic shock. I would recommend immediate consultation with a surgeon or other emergency care. Cellular Processes Modifications Discussion of NURS 6501
The physiologic response
The response noted by the mother was directly related to the stimulus of feedings. The infant’s reaction to ingesting the food caused the cells within the pancreas to produce digestive enzymes. The enzymes are blocked from entering the infant’s digestive tract, and the enzymes react with the cells of the pancreas, causing inflammation and pain. (Afloarei, 2020) Additionally, Afloarei (2020) relates the lack of enzymes entering the digestive tract leads to absorption issues and poor weight gain. This poor child is practically starving and experiencing excruciating pain when it attempts to remedy its hunger.
Alterations in Cellular Processes NURS 6501 Discussion
The cells
The cells involved with this disease are present primarily on the skin, digestive tract, and respiratory tract. This chloride and bicarbonate channel within these epithelial cells’ cell membranes is not functional (Miller et al., 2019). The cells are then incapable of moving chloride outside the cell membrane. Afloarei (2020) noted that the chloride’s transport, outside the cell, usually is responsible for thinning secretions within these bodily systems, and its absence leads to thick tenacious secretions. The secretions can then lead to obstructions that end up damaging the organ systems over time.
Other chacteristics
Both parents of the infant definitely would benefit from education on cystic fibrosis. I would initiate education on the basics of the

Alterations in Cellular Processes NURS 6501 Discussion
disease and refer her to local support groups. The mother inquired about potentially having additional children. I would use the illustration of the punnet’s square to illustrate the potential for disease transmission. Huether and McCance. (2020) stated average, 25% of the carriers’ offspring will be affected, 50% will be carriers, and 25% will be unaffected. I would do my best to explain the future medical experiences that are yet to come and stress the potential difficulties. This topic would be a difficult subject to approach, as personal opinions would be hard to exclude. Alterations in Cellular Processes NURS 6501 Discussion
References
Afloarei, D. (2020). High yield cystic fibrosis (S. Gillespie, Ed.). Osmosis.org. https://www.osmosis.org/learn/High_Yield:_Cystic_fibrosis
Huether, S., & McCance, K. (2020). Pathophysiology the biologic basis for diseasein adults and children (8th ed.). Elsevier Health Sciences (US).
Miller, A. C., Comellas, A. P., Hornick, D. B., Stoltz, D. A., Cavanaugh, J. E., Gerke, A. K., Welsh, M. J., Zabner, J., & Polgreen, P. M. (2019). Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proceedings of the National Academy of Sciences, 117(3), 1621–1627. https://doi.org/10.1073/pnas.1914912117
Sue Huether, Kathryn McCance. (2020). Pathophysiology the biologic basis for diseasein adults and children (8th ed.). Elsevier Health Sciences (US).
Yap, T. S., Jiwane, A., Belessis, Y., & Ooi, C. Y. (2014). Colonic atresia presenting as neonatal bowel obstruction in cystic fibrosis. Journal of Pediatric Gastroenterology and Nutrition, 58(4), e37–e38. https://doi.org/10.1097/mpg.0b013e3182769768
RE: Group A: Cystic Fibrosis
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Great post Scot. Cystic fibrosis is a chronic lung disease with systemic inflammation. (Ozturk et al, 2020). A study by Wadood and Solan (2014) shows that for people having cystic fibrosis, an aberrant gene causes the cells to secrete thick and sticky mucus, which clogs the different passageways or ducts in the body. Specifically, the defect is in the “cystic fibrosis transmembrane conductance regulator” (CFTR) gene, which is responsible for the movement of water and salt in and out the body cell.
Having such mutation can eventually lead to infections, respiratory failure and/or malnutrition can result. Particularly, in the digestive system, the abnormal mucus buildup can alter absorption and flow of digestive enzymes necessary for the absorption of food nutrients. Hence, patients can experience constipation, swollen abdomen, poor weight gain among others.
Certainly, the mother carries the defective cystic fibrosis gene. If both her partner carries the defective gene, she will have a 25% chance of producing a child with such disorder again in each pregnancy.
References Alterations in Cellular Processes NURS 6501 Discussion
Abdul Wadood Mohamed and Matthew Solan. (2014, February 19). Cystic Fibrosis: Causes, Diagnosis, and Treatment. Retrieved September 03, 2020, from https://www.healthline.com/health/cystic-fibrosis
ÖZTÜRK, G. K., EŞKİ, A., ÇELİK, F. Ç., CONKAR, S., GÜLEN, F., DEMİR, E., & KESKİNOĞLU, A. (2020). Prospective evaluation of vascular changes in acute respiratory infections in children with cystic fibrosis. Turkish Journal of Medical Sciences, 50(4), 1007–1014. https://doi-org.ezp.waldenulibrary.org/10.3906/sag-2002-61