Advance Pathophysiology: Cystic Fibrosis in Children
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 babys 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.
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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Solution
Cystic Fibrosis in Children
Genetic Role
Cystic fibrosis is a genetic disorder that results in severely damaged lungs, digestive systems, and other body organs. The disease mainly affects mucus, sweat, and digestive juices secreting cells (Brown et al., 2017). For a patient to reveal the disease, they must be homozygous for the recessive allele. An individual typically has a pair of genes expressing a specific trait. If the two parents carry genes with the CF, they are both carriers, and they, therefore, give a pass-on gene to their child since the child will carry two genes containing CF. Hence the child will suffer from CF.
Reason for the symptoms described
Enzymes break down food into nutrients in the pancreas for body absorption in the body. CF results in reduced enzymes in the pancreas resulting in indigestion and nutrient mal-absorption (VanDevanter et al., 2016). This explains why there is stomach discomfort after eating, making the child cry. It also results in no weight gain and growth. It also caused the dysfunction of the chloride and sodium channels that caused excessive sodium and chloride deposits on the skin surfaces; hence the child tasted salty when the mother kissed her (Dos Santos et al., 2018). It also thickens the mucus in the lungs resulting in congested chest episodes.
Physiologic response to the stimulus
Due to the CF transmembrane regulator dysfunction that results in mucus obstruction of the pancreatic duct blocks the catalysts and the bronchioles mucus (Lausen et al., 2021). All these causes indigestion, constipation, and chest clogging that inhibits nasal airflow and reduced growth and weight gain as presented by the child.
Cells that are involved in this process.
As a result of the CF gene in the body, the epithelial cell produces a defective enzyme commonly referred to as the transmembrane regulator, which is located in the cell lining of the lungs, digestive system, sweat glands, reproductive system, and pancreas (Mesinele et al., 2020).
How another characteristic (e.g., gender, genetics) would change your response
The transfer and display of the CF gene are gender-independent. If both parents are not CF gene carriers, the child cannot have CF, which would have resulted from more tests to determine the disease behind the symptoms.
References
Brown, S., White, R., & Tobin, P. (2017). Keep them breathing. Journal Of The American Academy Of Physician Assistants, 30(5), 23-27. https://doi.org/10.1097/01.jaa.0000515540.36581.92
dos Santos, A., de Melo Santos, H., Nogueira, M., Távora, H., de Lourdes Jaborandy Paim da Cunha, M., & de Melo Seixas, R. et al. (2018). Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents. Pediatric Gastroenterology, Hepatology & Nutrition, 21(4), 306. https://doi.org/10.5223/pghn.2018.21.4.306
Lausen, M., Uhre Nielsen, B., Møller, R., Rossi, E., Rye Ostrowski, S., & Pressler, T. et al. (2021). P132 Reduced systemic immune responses in cystic fibrosis patients. Journal Of Cystic Fibrosis, 20, S79. https://doi.org/10.1016/s1569-1993(21)01158-9
Mesinele, J., Ruffin, M., Guillot, L., Boëlle, P., & Corvol, H. (2020). P048 Pseudomonas aeruginosa lung infection in paediatric cystic fibrosis patients: risk factors and impact on lung function. Journal Of Cystic Fibrosis, 19, S68. https://doi.org/10.1016/s1569-1993(20)30384-2
VanDevanter, D., Kahle, J., OSullivan, A., Sikirica, S., & Hodgkins, P. (2016). Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment. Journal Of Cystic Fibrosis, 15(2), 147-157. https://doi.org/10.1016/j.jcf.2015.09.008
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