Scenario 2: A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further workup reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.
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.
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Discussion Post: Alterations in Cellular Processes
Cystic fibrosis is a genetically inherited disorder that primarily affects the exocrine glands, notably in the respiratory and gastrointestinal systems. The disease may affect other body organs, inducing a cascade of organ complications, such as impaired breathing among the affected individuals. Individuals presenting with cystic fibrosis have a homozygous expression of the recessive alleles that code the disease (Rey et al., 2019). The individual’s parents may not have the disease; hence they are denoted as disease carriers. Therefore, each heterozygous gene expressing cystic fibrosis in each parent is passed down to their offspring. Those presenting with homozygous gene expression for cystic fibrosis have gastrointestinal and respiratory complications, including indigestion and compromised breathing.
The patient described in the case scenario presents with such symptoms owing to pathophysiologic changes by the underlying health condition. The pancreas plays a fundamental role in the secretion of digestive enzymes useful in the digestion and absorption of ingested food. Cystic fibrosis is a major debilitating factor in the insufficiency of secreted pancreatic enzymes among individuals diagnosed with the disease. Following insufficiency of digestive enzymes, nutrient malabsorption and indigestion are common experiences in cystic fibrosis patients, hence the symptoms of stomach discomfort, very poor weight gain, and frequent crying. Upon licking the baby’s skin, the salty taste is attributed to deposited chloride and sodium ions on the skin following dysfunctional chloride and sodium ions (De Boeck & Amaral, 2016).
The presence of the cystic fibrosis gene in the individual’s body culminates in producing a transmembrane regulator, a defective protein by the epithelial cells. These epithelial cells form the primary lining of major organs, including the sweat glands, digestive tract, reproductive system, hepatobiliary system, and lungs (Declercq et al., 2019). Genetics or gender characteristics would significantly determine if the child would have the disorder or not. Therefore, further investigations would be necessary for arriving at the precise underlying health condition in the child.
De Boeck, K., & Amaral, M. D. (2016). Progress in therapies for cystic fibrosis. The Lancet Respiratory Medicine, 4(8), 662-674.
Declercq, M., Treps, L., Carmeliet, P., & Witters, P. (2019). The role of endothelial cells in cystic fibrosis. Journal of Cystic Fibrosis, 18(6), 752-761.
Rey, M. M., Bonk, M. P., & Hadjiliadis, D. (2019). Cystic fibrosis: emerging understanding and therapies. Annual review of medicine, 70, 197-210.