NURS 6501 Alterations in Cellular Processes

NURS 6501 Alterations in Cellular Processes

Sample Answer for NURS 6501 Alterations in Cellular Processes Included After Question

 

At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally. 

Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans. 

For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.  

RESOURCES 

 

Be sure to review the Learning Resources before completing this activity.
Click the weekly resources link to access the resources.  

WEEKLY RESOURCES 

To prepare: 

By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor. 

BY DAY 3 OF WEEK 1 

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation: 

  • 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. 

Read a selection of your colleagues’ responses. 

BY DAY 6 OF WEEK 1 

Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not

A Sample Answer For the Assignment: NURS 6501 Alterations in Cellular Processes

Title: NURS 6501 Alterations in Cellular Processes

Purpose Statement

This paper is being written to explain the pathology of cystic fibrosis. I personally have a friend who has this disease and have learned from her. The topics that will be covered are, how cystic fibrosis is created at a cellular level, genetics role in cystic fibrosis, the reasoning for the symptoms that the patient presented with, the description of the cells involved in cystic fibrosis, and how other characteristics would change the child’s response to cystic fibrosis. In short what I remember from nursing school is that cystic fibrosis is a genetic disorder which is an autosomal recessive gene that is carried by both the mother and the father. The abnormality occurs in chromosome 7 which is where creates an inability to transport small molecules across the cell’s membrane, which in turn, dehydrates the cells of the epithelium and this then creates dry secretion. This is a broad overview of what this disease is, but I will go into further detail below.

 

 The Role Genetics Plays in the Disease

Genetics play an important role in this disease, according to an article published in PubMed titled Cystic fibrosis genetics: from molecular understanding to clinical application states that due to a defective epithelial cell that is defective, this cell is inherited and is an autosomal recessive gene. The genetic information that is in the cell, which is the recipe for the cell to make proteins (Cutting, 2015).  According to Pathophysiology of disease: An introduction to clinical medicine, if a person receives a cystic fibrosis transmembrane conductance regulator gene (CFTCR), or a person can receive two copies of the CFTCR gene. This copy has a mutation of the cystic fibrosis gene, furthermore these two copies of the CFTR gene have stored a mutation which is the on chromosome seven. So, when the recipe is being presented to the cell to be made, the genetic information is then stored into the deoxyribonucleic acid which is known as DNA.  This is part of the twenty-three pairs of chromosomes, but on the seventh chromosome, the cystic fibrosis recipe is stored in that chromosome. In the DNA, where the CFTCR gene recipe lives, if there is one copy of the recipe than the gene will not show up in the person but will be a carrier but if there are two copies of the recipe being stored in the chromosome than the cystic fibrosis gene than the person will have cystic fibrosis (McCance at el., 2019).

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 Why the Patient is Presenting with the Specific Symptoms Described

The symptoms that the baby presented with were salty skin, periodically patient gets a swollen stomach, and not

NURS 6501 Alterations in Cellular Processes
NURS 6501 Alterations in Cellular Processes

gaining weight normally. According to an article published Journal of Cystic Fibrosis, titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, the major organ systems that are made up of epithelia. The systems that are being affected in this patient are the sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract. The article goes on to explain that the loss of pancreatic function leads to the patient suffering from malnutrition, and not growing normally. Therefore, the replacement of enzymes is important for this patient to be able to prevent the clogging of the cell because of the inability to breakdown an access amount key nutrient (Cutting, 2015).

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

After reading different sources, I was able to breakdown the pathology behind this patient’s symptoms. This disease starts with the CFTR gene protein being mutated in the chromosome seven, which there are two copies of the recipe, this mutation causes the decrease of chloride acceptance and ion being transported, then this makes the absorption of water to increase which throws off ciliary from completing the job and there is mucus that is dry, this is what causes the skin to be salty of the baby. The stomach inflammation and swelling that is being experienced, is due to the CFTR gene protein not having the right recipe present to the epithelial cell, this is causing malfunction by changing the reabsorption of the sodium, chloride and potassium in the cell, the recipe tells the cell to keep the sodium, chloride and potassium outside of the cell, this causes a back-up of outside of the cell structure and blocks the cell from absorbing the nutrients especially, proteins, fats and vitamins that are fat soluble.

The Cells that are Involved in this Process

The cells that are involved in this process start with the epithelial membranes which are present in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, stated that cystic fibrosis is a caused by the dysfunction in the epithelial cell which leads to inflammation and an inability to create homeostasis because of the constant inflammation caused by the CFTR gene. Furthermore, the epithelial cells end up failing and create apoptosis in the epithelial cell because of the inflammation the is created in the endoplasmic reticulum (Soleti at el., 2013).

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

For cystic fibrosis, it is important to understand that this would not be a disease if the parents did not carry the gene. The gene is the CFTR gene mutation, mentioned throughout this paper. According to a study done by Harvard Stem Cell Institute, where a lung cell was isolated to examine the function of the CFTR gene. It was shown in the study that if the ionocytes in the cell are not doing their job because it is expressing CFTR gene in increased levels, then the symptoms are created in the cell (Montoro at el., 2018). This occurs in the form of thick mucus and creates the response in the body that does not allow for the patient to regulate sodium, chloride, and potassium in a normal fashion.

Conclusion

During this journey of studying disease in depth and truly understanding how they work will help in the future of my career. I believe that if screening done at the hospitals before they leave would be beneficial. When parents are informed about the possibility of something occurring and what it means, parents will be empowered and get treatment before or if cystic fibrosis symptoms could show up. Also, encouraging parents to come to their baby checkups, will also allow for the medical staff to ask the right questions and treat the baby early, if they see symptoms. Cystic fibrosis is a challenge some patients may struggle with and it is our job as practitioners to catch things before extreme measures need to be taken.

 

References

 

Cantin, A.M, Hartl, D, Konstan, M and Chmiel, J. (2015). Inflammation in Cystic Fibrosis Lung Disease and Therapy. Journal of                        Cystic Fibrosis. Retrieved from https://www.cysticfibrosisjournal.com/article/S1569-1993(15)00058-2/fulltext.

 

Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews.                                        Genetics16(1), 45–56. https://doi.org/10.1038/nrg3849

 

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

 

Montoro D.T., Haber A.L., Biton M. et at. (2018) A Revised Airway Epithlial Heiracrchy Inclues CFTR-Expressing                                             Inoncytes.Nature. DOI: 10.1038/s41586-018-0393-7

 

Soleti, R., Porro, C., & Martínez, M. C. (2013). Apoptotic process in cystic fibrosis cells. Apoptosis : an                   international journal on programmed cell death18

Cystic Fibrosis and Genetics

 

Cystic fibrosis (CF) is a genetically inherited disease of the sweat and mucus glands that primarily affects the pulmonary system and gastrointestinal (GI) tract (Mayo Clinic, n.d). Each person receives one cystic fibrosis transmembrane conductance regulator (CFTR) gene that is passed from the father and mother resulting in two total CFTR genes (CDC, n.d.). CF is a recessive disorder which means that both parents must pass the defective gene for the child to have CF (McCance & Huether, 2019). If just one parent passes the defective gene, the child will be a carrier and have the possibility of passing to their children (McCance & Huether, 2019). There is a 25% chance that future children will either have CF or not have CF and a 50% chance that they could be carriers of CF.

 

Symptom Explanation

 

Patients with CF have a defective CFTR protein that is unable to transport chloride (an element in salt) to the cell surface (Cystic Fibrosis Foundation, n.d.). When salt cannot move through the cells as it normally should, higher amounts of salt are found on the skin resulting in a salty taste (Cystic Fibrosis Foundation, n.d.). Salt and water typically travel together through the body, but in CF this balance in the cells is disrupted and there is a lack of water due to the defective CFTR protein which causes thick and sticky secretions in the affected organs. The baby’s bloating is caused by these thickened secretions that can block the ducts in the pancreas and cause irregular bowel movements, pain, cramping, and even intestinal blockages (Cystic Fibrosis Foundation, n.d.). When the pancreas has obstructed ducts, it prevents the movement of pancreatic enzymes through the digestive tract which causes problems with the absorption of needed nutrients for proper growth of the baby (McCance & Huether, 2019).

 

Physiologic Response to Stimulus

 

The pancreatic ducts get clogged by the thicker secretions and this causes a decrease in the digestive enzymes that are secreted by the pancreas. When there are not enough digestive enzymes to properly break down the food, there is a problem absorbing nutrients needed for proper growth such as fats, proteins, and fat-soluble vitamins such as A, D, E, and K (Cystic Fibrosis Foundation, n.d.). Incomplete digestion leads to bloating, cramping, diarrhea, vitamin deficiency, and difficulty gaining weight.

 

Involved Cells

 

Epithelial cells are largely responsible for ion and fluid absorption and secretion (Saint-Criq, & Gray, 2017). In patients with CFTR protein defects, there are problems with sodium, chloride, and water absorption and secretion. The chloride can not be transported correctly which causes an imbalance between the electrolytes and water and ultimately leads to thickened secretions that cause problems throughout the organs.

 

Other Characteristics

More information is needed related to race, as Caucasians have a higher risk of developing CF, and African Americans, Asians, and Hispanics have a lower risk (Cystic Fibrosis Foundation, n.d.). Having a sibling, cousin, or other close family members also increases the risk of CF (Cystic Fibrosis Foundation, n.d.). In this scenario, it seems the older sibling may also have CF, but further testing is needed for proper diagnosis.

 

 

References

 

Cystic Fibrosis. (n.d.). CDC.  https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm.

 

Cystic fibrosis – Symptoms and causes – Mayo Clinic. (2021).  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.

 

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

 

Saint-Criq, V., & Gray, M. A. (2017). Role of CFTR in epithelial physiology. Cellular and molecular life sciences: CMLS74(1), 93–115. https://doi.org/10.1007/s00018-016-2391-y