The etiology of cystic fibrosis
A five-month-old Caucasian female is brought into the clinic as the parent indicates that she has been having ongoing foul-smelling, greasy diarrhea. She seems to be small for her age and a bit sickly but, her parent’s state that she has a huge appetite. Upon examination, you find that the patient is wheezing and you observe her coughing. After an extensive physical exam and workup, the patient is diagnosed with cystic fibrosis.
- Describe in detail the pathophysiological process of cystic fibrosis.
- Describe the pathophysiology of complications of cystic fibrosis.
- What teaching related to her diagnosis would you provide the parents?
Process of Cystic Fibrosis
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Process of Cystic Fibrosis
The Etiology of Cystic Fibrosis
“Life is not measured by the number of breaths we take, but by the jiffy that takes our breath away.” (Maya Angelou). Cystic fibrosis (CF) is a hereditary disorder that causes damage to the lungs, digestive system and other organs in the body. It affects the cells that manufacture mucus, sweat and digestive juices (Goetz & Ren, 2019). It causes these fluids to become thick and sticky. They then plug up tubes, ducts and passageways. Symptoms vary, including cough, continuing lung infections, weight loss, and fatty stools. Treatments may ease symptoms and reduce complications. Newborn screening helps with early diagnosis. Cystic fibrosis is brought about by a faulty gene that a child acquires from both parents (Bell et al., 2020). The faulty gene means some cells fight to move salt and water across the cell wall. This essay will focus on the pathophysiological process of cystic fibrosis, the pathophysiology of complications of cystic fibrosis, and finally, look at the teaching to provide related to the diagnosis of the patient.
The Pathophysiological Process of Cystic Fibrosis
Cystic Fibrosis is a genetic disorder that develops due to changes in the Cystic Fibrosis Transmembrane Conductance Regulator gene, which makes a protein responsible for epithelial ion transport and this can disrupt trans epithelial ion movement and the subsequent epithelium within a range of organs, including the respiratory system, pancreas, reproductive system, and sweat glands (Rout-Pitt et al., 2018). Changes in the CF gene cause the absence or dysfunction of the cystic fibrosis transmembrane conductance regulator protein, which works as a chloride canal in the apical membranes of epithelial cells. The CFTR also affects the production of mucus, secretory granules and intracellular organelles. The building up of mucus in the lungs damages lung tissues, leading to lung problems and difficulties in breathing. When it comes to the pancreas, the accumulated mucus causes the pancreas not to produce insulin as required leading to poor absorption of vitamins and nutrients, which causes poor growth (Pobłocki et al., 2020). Other organs of the body which get affected by cystic fibrosis are the sweat gland and the reproductive system, leading to salty sweat and infertility in men, respectively. The pathophysiological process of fibrosis is all about the improper functioning of cystic fibrosis transmembrane conductance regulator (CFTR) protein, where a thick mucus builds up in some body organs, leading to harmful health condition.
The Pathophysiology of Complications of Cystic Fibrosis
Cystic fibrosis affects the breathing system when the abnormal cystic fibrosis transmembrane conductance regulator protein leads to the production of the sticky mucus that blocks the airways, making it difficult for gas exchange hence leading to lungs complications and damage of lungs tissues, which eventually may lead to chronic disorders (Ghanem et al., 2020). The pathophysiology of complications of cystic fibrosis can be compound and complicated, where it germinates from the building of thick mucus in some organs. Cystic fibrosis interferes with the digestive system where the thick and sticky mucus accumulates on the pancreas, making it challenging to produce the digestive juice which is crucial in digesting proteins, hence poor nutrient absorption and stunted growth affecting even the reproductive system in men leading to infertility where cystic fibrosis can affect the respiratory system as it damages airways which makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes where the complications also affect the digestive system where the thick mucus can block the tube that carries digestive enzymes from the pancreas to the intestine increasing the risk of diabetes. such complications can be life-threatening and it is good to understand how to overcome them.
Teaching Related to the Diagnosis or the Patient
Many people are able to lead entire and active lives due to proper care and management. For the Caucasian female diagnosed with the disorder, it would be necessary for her parents to understand that the condition of their child requires regular care and management, the parents will have to work closely with their child’s healthcare team to come up with a treatment plan that addresses the child’s specific needs and it may include medications such as antibiotics and bronchodilators and also therapies to help remove mucus from the lungs and the digestive tract (Collins, 2018). The parents would also be needed to give attention to their child’s nutritional needs because cystic fibrosis affects the body’s way of absorbing nutrients. When the parents follow the above teaching, it will enable their daughter to live a joyful life without much complication. The child may live for a long time with the disorder but with fewer complications after proper care and management.
Conclusion
Cystic fibrosis is a genetic disorder that damages the lungs, digestive system, and other organs in the body and it affects the cells that produce mucus, sweat, and digestive juices, pathophysiological process of fibrosis is about the abnormal functioning of cystic fibrosis transmembrane conductance regulator protein, where a thick mucus builds up in some body organs, leading to a harmful health condition. Pathophysiology of complications of cystic fibrosis can be compound and complicated, where it develops from the building of thick mucus in some organs. It would be necessary for the child’s parents to understand that the condition of their child requires regular care and management and they have to work closely with their child’s healthcare team to come up with a treatment plan that addresses the child’s specific needs.
References
Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S., Davies, J. C., … & Ratjen, F. (2020). The future of cystic fibrosis care: a global perspective. The Lancet Respiratory Medicine, 8(1), 65-124. https://doi.org/10.1016/S2213-2600(19)30337-6
Collins, S. (2018). Nutritional management of cystic fibrosis–an update for the 21st century. Paediatric respiratory reviews, 26, 4-6. https://doi.org/10.1016/j.prrv.2017.03.006
Ghanem, R., Laurent, V., Roquefort, P., Haute, T., Ramel, S., Le Gall, T., … & Montier, T. (2020). Optimizations of in vitro mucus and cell culture models to better predict in vivo gene transfer in pathological lung respiratory airways: Cystic fibrosis as an example. Pharmaceutics, 13(1), 47. https://doi.org/10.3390/pharmaceutics13010047
Goetz, D., & Ren, C. L. (2019). Review of cystic fibrosis. Pediatric Annals, 48(4), e154-e161. https://doi.org/10.3928/19382359-20190327-01
Pobłocki, J., Jasińska, A., Syrenicz, A., Andrysiak-Mamos, E., & Szczuko, M. (2020). The neuroendocrine neoplasms of the digestive tract: diagnosis, treatment and nutrition. Nutrients, 12(5), 1437. https://doi.org/10.3390/nu12051437
Rout-Pitt, N., Farrow, N., Parsons, D., & Donnelley, M. (2018). Epithelial mesenchymal transition (EMT): a universal process in lung diseases with implications for cystic fibrosis pathophysiology. Respiratory Research, 19(1), 1-10. https://doi.org/10.1186/s12931-018-0834-8
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