NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

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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).

Why the Patient is Presenting with the Specific Symptoms Described

The baby’s symptoms included salty skin, a swollen stomach on occasion, and a failure to gain weight normally. According to an article published in the Journal of Cystic Fibrosis titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, epithelia make up the major organ systems. The sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract are all affected in this patient. The article goes on to explain that the patient suffers from malnutrition and does not grow normally as a result of the loss of pancreatic function. As a result, enzyme replacement is critical for this patient in order to prevent cell clogging caused by an inability to breakdown a 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 involved in this process begin with epithelial membranes found in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, cystic fibrosis is caused by epithelial cell dysfunction, which leads to inflammation and an inability to create homeostasis due to the CFTR gene’s constant inflammation. Furthermore, the epithelial cells fail and undergo apoptosis as a result of the inflammation that occurs 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.

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.

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.

Check Out Also: NURS 6501 Week 1 Discussion Alterations in Cellular Processes

Read a selection of your colleagues’ responses.

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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

What I have found through researching is that genetics make up more than 50% of substance use disorder/ addiction. One way genetics affects the person is through a predisposition. If an abuser has a close family member (parent, grandparent or sibling) that has struggled with addiction, they may be predisposed of developing an addiction also.  Another way is by their environment. If children are exposed to drugs and alcohol growing up, as they become adults, they are more susceptible to developing a problem. Dopamine receptors play a part in addiction/abuse.  People who have fewer dopamine receptors are more likely to become alcoholics as well as have an increased risk for cocaine or heroin (Ashley Addiction Treatment, 2022).  There are other risk factors that are involved such as environmental, personality traits, mental health, and the age of exposure.

Genes, developmental stage, gender, and ethnicity are among the biological factors that can influence the risk of substance abuse, according to NIDA (2020). Between 40 and 60 percent of a person’s risk of developing an addiction is caused by genes and environmental risk factors. According to NIDA (2020), adolescents and people with mental health issues are more likely than others to use drugs and become addicted. Numerous genes have been linked to addiction in general, as well as genes linked to addiction to particular substances. For instance Alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2; mitochondrial aldehyde dehydrogenase), alcohol metabolism is influenced by these genes. Hereditary contrasts that lead to higher ADH1B movement or lower ALDH2 action can bring about an individual encountering awkward side effects assuming they drink liquor which may lead to a defensive impact against alcohol abuse.  GABRA2 and CHRM2 genes are linked to alcohol use disorder (AUD). CHRNA2 gene has been linked to cannabis use disorder and HIST1H2BD is linked to being associated with cocaine dependence (NIDA, 2020). Chemical substances (opioids or cocaine) alters the dopamine receptors (brain reward center), and will eventually bring about addicitve behaviors characterized by diminished sensitivity to natural rewards. The reward deficiency syndrome has been linked to opioids and other drugs (Gondré-Lewis, et al., 2022).

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References:

Are genetics and substance use related? – ashley treatment. Ashley Addiction Treatment. (2022, August 26). https://www.ashleytreatment.org/rehab-blog/genetics-substance-use-related/#:~:text=Scientists%20have%20found%20that%20genetics,history%20of%20dependence%20or%20addiction

Links to an external site..

Gondré-Lewis, M. C., Elman, I., Alim, T., Chapman, E., Settles-Reaves, B., Galvao, C., … & Blum, K. (2022). Frequency of the dopamine receptor D3 (rs6280) vs. opioid receptor µ1 (rs1799971) polymorphic risk alleles in patients with opioid use disorder: a preponderance of dopaminergic mechanisms?. Biomedicines, 10(4), 870.

NIDA. 2020, July 13. Drug Misuse and Addiction. Retrieved from https://nida.nih.gov/publications/drugs-brains-behavior-science-addiction/drug-misuse-addiction on 2023, May 30

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