Nowadays, although the field of healthcare continually improves and is exposed to new inventions, there are still conditions that remain challenging. For example, couples are increasingly going through carrier screening to aid in making choices regarding reproduction (McCance & Huether, 2019). Among the hereditary conditions is cystic fibrosis (CF), which involves a mutation in the epithelial chloride channel protein CFTR and is influenced by genetic factors (Almughem et al., 2020).
The following symptoms of the 23-month-old child are the common manifestations of the condition. Failure to develop normally, experiences of inadequate growth in weight, and a distal intestine obstructive syndrome with or without insufficient functioning of the pancreas are all possible symptoms in infants with CF (Yu & Sharma, 2022). Moreover, high salt concentrations in the sweat of cystic fibrosis patients indicated an anomaly in electrolyte transport from the sweat gland (Yu & Sharma, 2022). Therefore, the symptoms can be explained through the issues connected to the disruptions.
The physiological responses of the infant are the result of the genetic mutation. The functionality of the CFTR protein is impacted by the underlying genetic mutation (Marshall, 2023). The lungs’ airways become blocked by abnormal mucus, which frequently causes lung infections (Marshall, 2023).
The cells of the digestive system are also affected by the malfunctioning CFTR protein, which impairs the pancreas’s ability to release enzymes for digestion (Marshall, 2023). Consequently, malnutrition results from improper absorption of nutrients from the diet. As for the cells, epithelial cells that cover the digestive, respiratory, and sweat ducts are the cells most frequently involved with CF (Yu & Sharma, 2022).
Finally, other characteristics may also alter the response. Since CF is an autosomal recessive condition, both parents must have the mutant CFTR gene for their child to inherit the condition (Marshall, 2023). Moreover, females with the condition have a more serious version of the disease, worse respiratory health, and earlier colonization and transition to the mucoid form of Pseudomonas, which is more invasive (Vidaillac et al., 2018). Overall, genetic counselling might be recommended to see whether it is possible to have other children without genetic mutations.
References
Almughem, F. A., Aldossary, A. M., Tawfik, E. A., Alomary, M. N., Alharbi, W. S., Alshahrani, M. Y., & Alshehri, A. A. (2020). Cystic fibrosis: Overview of the current development trends and innovative therapeutic strategies. Pharmaceutics, 12(7), 616.
Marshall, C. (2023). Goodman and Fuller’s pathology for the physical therapist assistant. Elsevier Health Sciences.
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8thed.). Mosby/Elsevier.
Yu, E., & Sharma, S. (2022). Cystic fibrosis. National Library of Medicine.
Vidaillac, C., Yong, V. F. L., Jaggi, T. K., Soh, M. M., & Chotirmall, S. H. (2018). Gender differences in bronchiectasis: A real issue? Breathe, 14(2), 108–121.