Case Study: Cystic Fibrosis in Children Assignment

Case Study: Cystic Fibrosis in Children Assignment

Cystic Fibrosis in Children

Cystic fibrosis is a common genetic disease among Caucasians. It is characterized by excessively salty sweat, recurrent chest congestions, and abdominal distension in children. The median age of diagnosis is 6-8 months (Yu & Sharma, 2020). The purpose of this paper is to discuss symptomatology, the role of genetics in disease CF, and aspects in the pathophysiology of CF.

The Role of Genetics in  CF

CF is a genetic disorder transmitted in an autosomal recessive fashion. It is due to a mutation in the Cystic Fibrosis Transmembrane conductance regulator gene which ultimately causes a dysfunction in the chloride channel protein leading to decreased secretion of chloride (Kumar et al., 2018). There is a 1 in 4 chance of a child having CF from parents. This means, in this case, the woman can have more children with minimal probability of them having CF

Why is the Patient Presenting with the Specific Symptoms Described?

CF causes a decrease in the chloride ion secretion which leads to increased reabsorption and resorption of sodium and water. This makes the mucus secretions from the epithelial linings extremely thick. Partial intestinal obstruction and recurrent respiratory tract infections are due to the thick mucus plugs (Kumar et al., 2018). The thick plugs also cause malabsorption in the intestines. In the sweat glands, the chloride channel protein functions to reabsorb both sodium and chloride (Yu & Sharma, 2020). The salty sweat is as a result of dysfunction of the chloride channel protein.

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The physiologic response to the stimulus presented in the scenario and why you think this response occurred.

The physiologic response is pain after eating which makes the baby cry. This is probably due to the obstruction of the intestines caused by thick mucus plugs causing stretching of the intestinal walls and is transmitted as pain by the vagus nerve afferents. Other causes of pain could be the results of intestinal dysmotility, overgrowth of normal flora, and inflammation.

The cells that are involved in this process.

There is epithelial goblet cell dysfunction in the exocytosis of mucin. This dysfunction spurs ciliary dysfunction. The cells involved in sinopulmonary infections include neutrophils, macrophages, natural killer cells, and the T helper cells which secrete proinflammatory cytokines.

How another characteristic (e.g., gender, genetics) would change your response?

There is a gender variation in progression and symptoms of CF. in males, there could be an accompanying undescended testis. Females have a poor outcome in CF. this may be attributed to the narrow airspaces, smaller lung capacity, and estrogen hormone that makes Pseudomonas aeruginosa resistant to antibiotics (Lam et al., 2021). Mutations like c.233dupT mutation have been associated with severe disease.

References

Kumar, V., Abbas, A. K., Aster, J. C., & Perkins, J. A. (2018). Robbins Basic Pathology (9th ed.). Philadelphia, Pennsylvania Elsevier.

Lam, G. Y., Goodwin, J., Wilcox, P. G., & Quon, B. S. (2021). Sex disparities in cystic fibrosis: review on the effect of female sex hormones on lung pathophysiology and outcomes. ERJ Open Research, 7(1). https://doi.org/10.1183/23120541.00475-2020

Yu, E., & Sharma, S. (2020). Cystic Fibrosis. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK493206/

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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 work up 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.
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.