Cystic Fibrosis Essay

Week 1 Discussion

 

Cystic Fibrosis: Alterations in Cellular Processes, Symptoms, and Impacts

Diseases occur due to many reasons. These diseases are caused by altering cell structural form, environment, and function. Studying cell structural form and function disruption by factors such as genetic defects can help us understand disease processes (McCance & Huether, 2019). This paper examines children’s cystic fibrosis (CF) disorder, how it manifests, affects cells, and physiological responses Cystic Fibrosis Essay.

Role of Genetics in Cystic Fibrosis

CF is a genetically transmitted disorder that severely damages the digestive system and the lung and may also spread to other body organs. The gene is recessive, and children inherit a copy of the gene from each parent to have the disease (Butnariu et al., 2021). A cystic fibrosis transmembrane conductance regulator (CFTR) gene mutates and interferes with a protein that regulates salts moving in and out of the cells (Rossi, 2019). The affected cells produce excess thick and sticky mucus in children’s digestive and respiratory systems and also increase salt levels in sweat.

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Cause and Symptoms of Cystic Fibrosis

CF disorder causes the production of thick and sticky mucus in the lung’s airways. As children are born with smaller diameter airways than adults, they suffer more obstruction of excess mucus. This obstruction makes the child have persistent coughs, wheezing, and inflamed nasal airways, resulting in congestion in babies. In the digestive system, affected mucosal cells produce thick mucus that blocks the release of digestive enzymes in the small intestine causing poor weight gain, swelling of the bellies, intestinal blockage, and constipation (Rossi, 2019). In addition, CF also affects sweat glands leading to a higher level of salts in the sweat. In this case, the parent would taste salt while kissing the child suffering from CF disease.

Cells Involved and Physiological Response to Stimuli

CF disease affects mucus-producing cells of the lungs, digestive systems, and sweat gland cells. The CFTR gene alters the protein that regulates water and solute in these organs. As a result, these cells respond to these alterations caused by the CF disease. The affected protein traps chloride in solute in cells, hindering water hydration on cellular surfaces and resulting in the formation of a mucosal lining on cell surfaces (Rossi, 2019).

In summary, aging also causes alteration of cellular structure and function. Older adults can also get CF disease as their aged cells have a reduced capacity to recover if exposed (McCance & Huether, 2019). CF disease has a genetic risk factor as it runs in families. If any partner has a history of risk factors, genetic testing can be done before having children to prevent the spread of the disease.

References

Butnariu, L. I., Țarcă, E., Cojocaru, E., Rusu, C., Moisă, Ș. M., Leon Constantin, M., Gorduza, E. V., & Trandafir, L. M. (2021). Genetic modifying factors of cystic fibrosis phenotype: A challenge for modern medicine. Journal of Clinical Medicine, 10(24), 5821. https://doi.org/10.3390/jcm10245821

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Rossi, G. A., Morelli, P., Galietta, L. J., & Colin, A. A. (2019). Airway microenvironment alterations and pathogen growth in cystic fibrosis. Pediatric Pulmonology, 54(4), 497-506. https://pubmed.ncbi.nlm.nih.gov/30620146/

 

RE: Week 1 Discussion

 

Thank you for contributing to our discussion on CF. In your readings, did you find any information on prenatal genetic screening and CF? What might you tell a pregnant patient about CF? Thank you!

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RE: Week 1 Discussion

 

Hi 

Thank you for your insightful response to cystic fibrosis. With attention to the cause of the disease and symptoms, I strongly agree with your assessment. It’s notable from your explanation that the cause of poor health, poor weight gain, and belly swelling was caused by interference of pancreatic enzymes by a thick mucus layer. Without digestive enzymes, the intestine will not be able to absorb nutrients from the food the baby eats despite having a good appetite (VanDevanter et al., 2016). With this in mind, cystic fibrosis can turn severe, and it’s important to consult a physician knowledgeable about CF.

In your explanation, I note that CF disease affects sweat glands, resulting in salt in sweat. I agree that parents should kiss or taste their babies’ sweat as a diagnostic method for CF disease home remedies.

It is correct that thick and sticky mucus clogs a baby’s lungs, causing chest congestion. Hence the physiological responses were seen in the baby (Ranganathan et al., 2017). In my opinion, I would advise the mother to consult the physician before having another child to avoid the recurrence of the disease in the same family.

Reference

VanDevanter, D. R., Kahle, J. S., O’Sullivan, A. K., Sikirica, S., & Hodgkins, P. S. (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.

Ranganathan, S. C., Hall, G. L., Sly, P. D., Stick, S. M., & Douglas, T. A. (2017). Early lung disease in infants and preschool children with cystic fibrosis. What have we learned, and what should we do about it? American journal of respiratory and critical care medicine, 195(12), 1567-1575.

 

RE: Week 1 Discussion

 

Hello 

          Thank you for your response to this class discussion on cystic fibrosis. I agree with your point that CF is a  disease cause by altering cell structural form, environment, and function. Cystic fibrosis is an inherited gene, which means it can be passed on to future generations. The term for this gene is autosomal recessive. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene is affected by cystic fibrosis. The CFTR gene is located on chromosome 7 and comprises 27 exons that code for proteins (Deignan et al., 2020). The genotype of CFTR is expressed in epithelial cells and can result in a variety of symptoms that affect the progression of the illness (McCance & Huether, 2021).

CF is distinct for every sufferer. Like you noted too CF disease affects sweat glands, resulting in salt in sweat hence the salty taste from the child in the scenerio. 

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Deignan, J.L., Astbury, C., Cutting, G.R. et al. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 22, 1288–1295 (2020). https://doi.org/10.1038/s41436-020-               0822-5

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

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2 months ago

Basil Uke 

RE: Week 1 Discussion

COLLAPSE

Hello Jemaeden,

                Thank you for sharing your thoughts on this week’s discussion. Cystic fibrosis is a genetic disorder resulting in several ways when genes are incorrectly expressed. The disease can result from gene deletion, gene repetition, when the gene is incorrectly read, and when the gene is completely missing, among other causes. Again, genetics plays a crucial role in the expression of cystic fibrosis. The causative gene of cystic fibrosis is the CFTR gene which is recessive, and it causes an interference in the protein that is responsible for regulating salt and water balance in the body. According to Moran, Pillay, and Becker et al., (2018), the transmembrane gene, is the gene known to change a particular protein in epithelial cells that regulates the movement of salt in and out of the cell.

                I agree with you that children may suffer more obstructions of mucus as compared to adults. Meaning cystic fibrosis may be more severe in children than adults due to the immune response and the organ size. Children may also display more severe symptoms than adults as their organs are still weak to control the severity of the infection; hence they are limited to doing several activities. According to Kidd, Canton, and Ekkelenkamp et al., (2018), patients with cystic fibrosis are characterized by an abnormal ventilation response that limits them from extraneous activities. The cells involved in response to stimuli are quite a number, while cystic fibrosis majorly affects the cells that produce mucus in different organs, including the lungs and pancreas. Your ideology that age is a factor that can cause cystic fibrosis is enlightening. I have learned that aging can also pose a danger to cystic fibrosis as it may cause the alteration of cellular structure.

References

Kidd, T. J., Canton, R., Ekkelenkamp, M., Johansen, H. K., Gilligan, P., LiPuma, J. J., … & Antimicrobial Resistance in Cystic Fibrosis International Working Group. (2018). Defining antimicrobial resistance in cystic fibrosis. Journal of Cystic Fibrosis, 17(6), 696-704.

Moran, A., Pillay, K., Becker, D., Granados, A., Hameed, S., & Acerini, C. L. (2018). ISPAD Clinical Practice Consensus Guidelines 2018: Management of cystic fibrosis-related diabetes in children and adolescents. Pediatric diabetes, 19, 64-74.

 

 

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2 months ago

Lois Wood 

RE: Week 1 response 1

COLLAPSE

Jemaeden,  

Thank you for your post. While I agree that the CF manifestations in the respiratory system and GI tract are essential, and mortality is most often related to respiratory issues, I believe that the other systems involved should be considered.  

CF can lead to elevated concentrations of sodium and chloride in sweat glands manifesting as hyponatremia and hypochloremia, potentially leading to heat prostration and shock (McCance, 2019). In the pancreas, CF can result in enzyme deficiency causing inspissation and precipitation of pancreatic secretions leading to obstruction of pancreatic ducts, malabsorption of food, fatty, bulky stools, and decreased vitamins absorption; complications include hypoproteinemia, iron deficiency anemia, malnutrition, recurrent pancreatitis, pancreatic cysts, growth failure, vitamin deficiency, rectal prolapse, decreased bone density and risk of fractures (McCance, 2019). Pancreatic damage can also lead to insulin deficiency and glucose intolerance, possibly leading to diabetes (McCance, 2019). In males, CF can cause delayed puberty and sterility, while in females, it can cause delayed puberty, decreased fertility, and polypoid cervicitis while taking oral contraceptives (McCance, 2019) Cystic Fibrosis Essay. 

References 

McCance, S. (2019). Pathophysiology (8th Edition). Elsevier Health Sciences (US). https://mbsdirect.vitalsource.com/books/9780323583473 

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2 months ago

Lauren Russell 

RE: Week 1 Discussion

COLLAPSE

Discussion Response Reply

Jemaeden,

Thank you for your insight regarding cystic fibrosis.  Cystic fibrosis is a very interesting disease that affected my sister-in-law later in life.  Neither parent knew they were a carrier until she was diagnosed in her late teens.  My friend also has a daughter with CF.  Her condition continues to deteriorate and her frequently posts when she is hospitalized due to her condition.

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Cystic fibrosis is a very rare condition, which approximately 30,000 people in the US and 80,000 people around the world (Brown et al., 2017).  The life expectancy for this population is relatively low.  In Germany, the lifespan of someone with CF is approximately 40 years old (Naehrig et al., 2017).  Due to chronic endobronchial bacterial infections, exacerbations, and pulmonary structural changes, chronic lung disease is one of the most common causes of death.  Thank you again for sharing about cystic fibrosis.  You provided a lot of great information in your post. 

References

Brown, S., White, R., Tobin, P. (2017).  Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. JAAPA: Vol 35 (5) p 23-27 doi: 10.1097/01.JAA.0000515540.36581.92 

Naehrig, S., Chao, C. M., & Naehrlich, L. (2017). Cystic Fibrosis. Deutsches Arzteblatt international, 114(33-34), 564–574. https://doi.org/10.3238/arztebl.2017.0564

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2 months ago

Sheena Murray 

RE: Week 1 Discussion

COLLAPSE

Jemaeden,

I found it fascinating throughout my studies to hear that older adults could develop cystic fibrosis (CF). I admittedly only had a minimal understanding of cystic fibrosis (CF), characterized by salty kisses and thick mucus requiring the jiggle vest and other respiratory treatments, prior to this case study. Still, I had always thought it was an illness that only affected children. A diagnosis over 40 is still uncommon, but there is still a chance of receiving one at or beyond 60 years of age. Currently, survival times can surpass 40 years, particularly in the case of patients from pediatric units. Since there hasn’t been much research on CF in individuals over 60, understanding the clinical characteristics of patients identified at older ages may be crucial. The importance of CF diagnosis rests in providing an accurate prognosis, effective treatment, and genetic counseling for affected families (Prados et al., 2017). While CF is typically diagnosed when a person is young, it is no longer just a pediatric condition. While the number of children with CF has remained steady over the past ten years, the number of adults with CF is still rising (Santos et al., 2017).

A comparison by (Santos et al., 2017) showed that patients with early diagnosis typically have a combination of gastrointestinal and pulmonary symptoms. In contrast, patients with late diagnosis typically have recurrent pulmonary infections as the primary diagnosis cause and have fewer gastrointestinal symptoms. They discovered that patients who present as adults seem to differ from those who give as children. According to research, adults diagnosed as adults typically present in a variety of atypical ways, are more likely to have milder disease, have a better long-term prognosis, have better lung function, have higher rates of pancreatic sufficiency, experience fewer complications, and have a longer life expectancy than adults diagnosed as adults as children (Santos et al., 2017). It is essential for doctors and advanced practice registered nurses (APRNs) to be aware of the symptoms that may be presenting later in life so we do not miss an essential diagnosis that requires immediate attention and treatment. 

 

References

Santos, V., Cardoso, A. V., Lopes, C., Azevedo, P., Gamboa, F., & Amorim, A. (2017). Cystic fibrosis – comparison between patients in pediatric and adult age. Revista Portuguesa De Pneumologia (English Edition), 23(1), 17–21. https://doi.org/10.1016/j.rppnen.2016.07.002

Prados, C., Lerín, M., Cabanillas, J. J., Gómez-Carrera, L., Álvarez-Sala, R., Martinez, M. T., Máiz, L., Girón, R. M., Solé, A., Martínez, M., & Quirós, S. (2017). How are the ancient cystic fibrosis patients? cystic fibrosis diagnosed over 60 years-old. Respiratory Medicine Case Reports, 21, 49–51. https://doi.org/10.1016/j.rmcr.2017.03.015

 

 

Discussion: Alterations in Cellular Processes

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