Week 1 Discussion
Factors That Influence Disease
Scenario Group A
An infant child was brought to provider by child’s mother with complaints of excessive crying, failure to gain weight, abdominal bloating, salty tasteto skin, congestion, and recent pneumonia. Some comparisons made with 2-year-old sibling during assessment. Diagnosis determined infant to have Cystic Fibrosis. Mother had questions and concerns relating to the disease.
Defining Cystic Fibrosis
Basic education on the disease was given to mother beginning with the definition of cystic fibrosis as a life-long disorder affecting all races of people (Cutting, 2015). This disorder is considered a recessive disease, meaning both parents must carry the gene for the disorder to pass it to their offspring (McCance and Huether, 2019).
According to Cutting (2019), the disease is characterized by accumulation of thick secretions within the respiratory airways. Multiple organs are affected such as the pancreas, liver, intestines, sweat glands, and reproductive organs (Cutting, 2019). Eventual cause of death is usually respiratory failure with the average age of mortality being thirty-seven years of age (Cutting, 2019). Thick secretions cause inflammation of breathing airways triggering hypersensitive reactions (Justin-Vaillant and Zito, 2019) leading to symptoms of congestion and pneumonia. The digestive system is affected due to inability of pancreas to secrete hormones necessary for digestion (Cutting, 2019) which could lead to abdominal bloating causing crying and failure to gain weight. The cells of sweat glands are altered by hypersensitive reactions causing the skin to taste salty (Justin-Vaillantand Zito, 2019).
Genetic Predisposition
According to McCance and Huether (2019), chance of occurrence for cystic fibrosis is 1 out of 2,500 births. This genetic disorder tends to affect both sexes equally and is often noted in siblings (McCance and Huether, 2019). The mother asked about chances of this disorder occurring should she have another child. If both parents were found to be genetic carriers of the disorder, there would exist a one-fourth chance of affected offspring (McCance and Huether, 2019).
References
Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45–56. https://doi-org.ezp.waldenulibrary.org/10.1038/nrg3849
Justin-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In StatPearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
One of the more common biology analogies refers to cells as the “building blocks” of life. This rightfully places an emphasis on understanding cells, cellular behavior, and the impact of the environment in which they function.
Such an understanding helps explain how healthy cell activity contributes to good health. Just as importantly, it helps explain how breakdowns in cellular behavior and alterations to cells lead to health issues.
This week, you examine cellular processes that are subject to alterations that can lead to disease. You evaluate the genetic environments within which these processes exist as well as the impact these environments have on disease.
Students will:
Photo Credit: Getty Images
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.
To prepare:
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
Read a selection of your colleagues’ responses.
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
Note: For this Discussion, you are required to complete your initial post before you will be able to view and respond to your colleagues’ postings. Begin by clicking on the “Post to Discussion Question” link and then select “Create Thread” to complete your initial post. Remember, once you click on Submit, you cannot delete or edit your own posts, and you cannot post anonymously. Please check your post carefully before clicking on Submit!
To access your rubric:
Week 1 Discussion Rubric
To Participate in this Discussion:
Week 1 Discussion
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Next week, you will examine alterations in the immune system and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, that may impact altered physiology.
With a place squarely in the spotlight for patients diagnosed with all manner of disease, APRNs must demonstrate not only support and compassion, but expertise to guide patients’ understanding of diagnoses and treatment plans.
This expertise goes beyond an understanding of disease and sciences, such as cellular pathophysiology. APRNs must become experts in their patients, understanding their medical backgrounds, pertinent characteristics, and other variables that can be factors in their diagnoses and treatments.
This week, you examine alterations in the immune system and the resultant disease processes. You consider patient characteristics, including racial and ethnic variables, and the impact they have on altered physiology.
Students will:
An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.
Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.
Photo Credit: Getty Images/Hero Images
An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
Develop a 1- to 2-page case study analysis in which you:
Submit your Case Study Analysis Assignment by Day 7 of Week 2.
Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.
To submit your completed Assignment for review and grading, do the following:
To access your rubric:
Module 1 Assignment Rubric
To check your Assignment draft for authenticity:
Submit your Module 1 Assignment draft and review the originality report.
To participate in this Assignment:
Module 1 Assignment
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In Module 2, you will analyze processes related to cardiovascular and respiratory disorders. To do this, you will analyze alterations in the cardiovascular and respiratory systems and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, which may impact physiological functioning and altered physiology.
In the Week 3 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 2. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check, since the resources cover the topics addressed. Plan your time accordingly.
The circulatory system and the respiratory system are powerful partners in health. While they work closely together in good health, a disease or disorder that manifests in one can have a significant impact on both, hampering the pair’s ability to collaborate.
Cardiovascular and respiratory disease and disorders are among the most common reasons for hospital visits, and among the leading causes of fatality. Heart disease and pneumonias are among the most familiar, but a wide variety of issues can impact physiological functioning of one or both systems.
This week, you examine fundamental concepts of cardiovascular and respiratory disorders. You explore common diseases and disorders that impact these systems, and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
In this exercise, you will complete a 10- to 20-essay type question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Photo Credit: Getty Images/Science Photo Library RF
To complete this Knowledge Check:
Module 2 Knowledge Check
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Next week, you will examine the alterations in the cardiovascular and respiratory systems and the resultant disease processes through case study analysis. You will also consider patient characteristics, including racial and ethnic variables, which may impact altered physiology.
Cardiovascular and respiratory disorders can quickly become dangerous healthcare matters, and they routinely land among the leading causes of hospital admissions. Disorders in these areas are complicated by the fact that these two systems work so closely as contributors to overall health. APRNs working to form a similarly close partnership with patients must demonstrate not only support and compassion, but expertise to guide the understanding of diagnoses and treatment plans. This includes an understanding of patient medical backgrounds, relevant characteristics, and other variables that can be factors in their diagnoses and treatments.
This week, you examine alterations in the cardiovascular and respiratory systems and the resultant disease processes. You also consider patient characteristics, including racial and ethnic variables, and the impact they have on altered physiology.
Students will:
An understanding of the cardiovascular and respiratory systems is a critically important component of disease diagnosis and treatment. This importance is magnified by the fact that these two systems work so closely together. A variety of factors and circumstances that impact the emergence and severity of issues in one system can have a role in the performance of the other.
Effective disease analysis often requires an understanding that goes beyond these systems and their capacity to work together. The impact of patient characteristics, as well as racial and ethnic variables, can also have an important impact.
Photo Credit: yodiyim – stock.adobe.com
An understanding of the symptoms of alterations in cardiovascular and respiratory systems is a critical step in diagnosis and treatment of many diseases. For APRNs this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study scenario for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
In your Case Study Analysis related to the scenario provided, explain the following
Submit your Case Study Analysis Assignment by Day 7 of Week 4
Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.
To submit your completed Assignment for review and grading, do the following:
To access your rubric:
Module 2 Assignment Rubric
To check your Assignment draft for authenticity:
Submit your Module 2 Assignment draft and review the originality report.
To participate in this Assignment:
Module 2 Assignment
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In Module 3, you will analyze processes related to gastrointestinal and hepatobiliary disorders through case study analysis. To do this, you will analyze alterations in the relevant systems and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, which may impact physiological functioning and altered physiology.
In Week 5 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 3. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check since the resources cover the topics addressed. Plan your time accordingly.
To go to the next Module:
Module 3
Patients of gastrointestinal and hepatobiliary disorders often face life-altering changes, including changes to diet, new treatment regimens, and more. For some disorders, treatments can include surgery.
Gastrointestinal conditions, such as ulcers, diverticulitis, and pancreatitis, often cause varying levels of pain and discomfort. Hepatobiliary conditions can also bring significant changes to patient routines and well-being.
This week, you examine fundamental concepts of gastrointestinal and hepatobiliary disorders. You explore common disorders in these categories, and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
In this exercise, you will complete a 10- to 20-essay type question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Photo Credit: Getty Images
To complete this Knowledge Check:
Module 3 Knowledge Check
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In Module 4, you will analyze processes related to endocrine disorders. To do this, you will analyze alterations in the relevant systems and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, that may impact physiological functioning and altered physiology.
In the Week 6 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 4. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check, since the resources cover the topics addressed. Plan your time accordingly.
Also, during this week you will take your Midterm Exam. Please make sure to finalize and complete your Knowledge Check prior to completing your exam.
Endocrine disorders are complex matters, and there is not always a one-size-fits-all treatment. Particularly in matters requiring the adjustment of hormone levels, treatment may require a custom approach tailored to individual patients. An understanding of these complications is essential to supporting these individual treatment plans.
This week, you examine alterations in the endocrine system and the resultant disease processes. You also consider patient characteristics, including racial and ethnic variables, and the impact they have on altered physiology.
Students will:
In this exercise, you will complete a 10- to 20-essay type question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Photo Credit: Getty Images/Science Photo Library RF
(Note: It is strongly recommended that you take the Knowledge Check at least 48 hours before taking the Midterm Exam.)
To complete this Knowledge Check:
Module 4 Knowledge Check
This 101-question exam is a test of your knowledge in preparation for your certification exam. No outside resources, including books, notes, websites, or any other type of resource, are to be used to complete this exam. You are expected to comply with Walden University’s Code of Conduct.
This exam will be on topics covered in Weeks 1, 2, 3, 4, 5, and 6. Prior to starting the exam, you should review all of your materials. This exam is timed with a limit of 2 hours for completion. When time is up, your exam will automatically submit.
(Note: It is strongly recommended that you take the Knowledge Check at least 48 hours before taking the Midterm exam.)
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To prepare:
To help you review for your midterm exam, access the Midterm Exam Review document found in this week’s Learning Resources as well as any Knowledge Check feedback you might have received. (Note: You will also need to review all of your materials from each of these weeks to also help you better prepare for your midterm.)
Submit your Midterm Exam.
To complete your exam:
Midterm Exam
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In Module 5, you will analyze processes related to neurological and musculoskeletal disorders through case study analysis. To do this, you will analyze alterations in the relevant systems and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, which may impact physiological functioning and altered physiology.
In the Week 7 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 5. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check, since the resources cover the topics addressed. Plan your time accordingly.
Anatomists often use the analogy of a house to explain the human body, with skeletal systems, respiratory systems, and circulatory systems represented as a home’s framing structure, ventilation, and piping, respectively. Such analogies further emphasize the point that relationships between systems can result in complications when issues arise in one system.
With hundreds of diseases that can impact the brain, spine, and nerves, neurological disorders represent a complicated array of issues that present significant health concerns. Disorders such as strokes and Parkinson’s disease not only affect the nervous system, however; they can have secondary impacts in other areas, especially the musculoskeletal system.
This week, you examine fundamental concepts of neurological disorders. You explore common disorders that impact these systems and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
In this exercise, you will complete a 10- to 20-essay type question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Three basic bone-formations:
Photo Credit: Getty Images/Science Photo Libra
To complete this Knowledge Check:
Module 5 Knowledge Check
As homeowners know all too well, there is a continuous need for maintenance and repair. Some efforts are precautionary in nature, while others are the result of issues that surface over time.
Similarly, musculoskeletal disorders can develop over time. For some disorders, such as osteoporosis, precautionary treatments are a potential option. But much like issues that surface in a home over time, many musculoskeletal issues can be very serious concerns, and they can have a significant impact on patients’ lives.
This week, you continue to examine fundamental concepts of neurological and musculoskeletal disorders. You explore common disorders that impact these systems and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
Note: The below resources were first presented in Week 7. If you have previously reviewed them, you are encouraged to read or view them again here.
An understanding of the neurological and musculoskeletal systems is a critically important component of disease and disorder diagnosis and treatment. This importance is magnified by the impact that that these two systems can have on each other. A variety of factors and circumstances affecting the emergence and severity of issues in one system can also have a role in the performance of the other.
Effective analysis often requires an understanding that goes beyond these systems and their mutual impact. For example, patient characteristics such as, racial and ethnic variables can play a role.
Photo Credit: jijomathai – stock.adobe.com
An understanding of the symptoms of alterations in neurological and musculoskeletal systems is a critical step in diagnosis and treatment. For APRNs this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study scenario for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
In your Case Study Analysis related to the scenario provided, explain the following:
Submit your Case Study Analysis Assignment by Day 7 of Week 8.
Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.
To submit your completed Assignment for review and grading, do the following:
To access your rubric:
Module 5 Assignment Rubric
To check your Assignment draft for authenticity:
Submit your Module 5 Assignment draft and review the originality report.
To participate in this Assignment:
Module 5 Assignment
Among the many risk factors for mental disorders are genetics and other pathophysiological factors. While other factors, such as environmental factors or substance abuse, can also have an impact, it is important to recognize the connections between biological factors and psychological disorders.
Ranging from anxiety to schizophrenia, psychological disorders offer unique challenges in diagnosis and treatment. Clearly, the presence of these disorders can be life-altering for patients, but they can also significantly impact families and other loved ones.
This week, you examine fundamental concepts of psychological disorders. You explore common psychological disorders, and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
In this exercise, you will complete a 10-20 question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Photo Credit: agsandrew – stock.adobe.com
To complete this Knowledge Check:
Module 6 Knowledge Check
Photo Credit: [BrianAJackson]/[iStock / Getty Images Plus]/Getty Images
In Module 7, you will analyze processes related to women’s and men’s health, infections, and hematologic disorders through case study analysis. To do this, you will analyze alterations in the relevant systems and the resultant disease processes. You will also consider patient characteristics, including racial and ethnic variables, which may impact physiological functioning and altered physiology.
In the Week 10 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 7. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check, since the resources cover the topics addressed. Plan your time accordingly.
Literature, cinema, and other cultural references have long examined differences between women and men. These observations extend well beyond obvious and even inconspicuous traits to include cultural, behavioral, and biological differences that can impact pathophysiological process and, ultimately, health.
Understanding these differences in traits and their impact on pathophysiology can better equip acute care nurses to communicate to patients of both sexes. Furthermore, APRNs who are able to communicate these differences can better guide care to patients, whatever their gender.
This week, you examine fundamental concepts of women’s and men’s health disorders. You also explore common infections and hematologic disorders, and you apply the key terms and concepts that help communicate the pathophysiological nature of these issues to patients.
Students will:
In this exercise, you will complete a 10-20-question Knowledge Check to gauge your understanding of this module’s content.
Possible topics covered in this Knowledge Check include:
Photo Credit: Getty Images
To complete this Knowledge Check:
Module 7 Knowledge Check
An understanding of the factors surrounding women’s and men’s health, infections, and hematologic disorders can be critically important to disease diagnosis and treatment in these areas. This importance is magnified by the fact that some diseases and disorders manifest differently based on the sex of the patient.
Effective disease analysis often requires an understanding that goes beyond the human systems involved. The impact of patient characteristics, as well as racial and ethnic variables, can also have an important impact..
An understanding of the symptoms of alterations in systems based on these characteristics is a critical step in diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study scenario for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
In your Case Study Analysis related to the scenario provided, explain the following:
Submit your Case Study Analysis Assignment by Day 7 of Week 10
Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.
To submit your completed Assignment for review and grading, do the following:
To access your rubric:
Module 7 Assignment Rubric
To check your Assignment draft for authenticity:
Submit your Module 7 Assignment draft and review the originality report.
To participate in this Assignment:
Module 7 Assignment
Photo Credit: [BrianAJackson]/[iStock / Getty Images Plus]/Getty Images
In Module 8, you will examine pediatric pathophysiology. You will identify diseases, disorders and issues relevant to the treatment of children. You will also take the Final Exam for the course.
In the Week 11 Knowledge Check, you will demonstrate your understanding of the topics covered during Module 11. This Knowledge Check will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Knowledge Check, since the resources cover the topics addressed. Plan your time accordingly.
In the Week 11 Final Exam, you will demonstrate your understanding of the topics covered during Weeks 7–11 of the course. This Final Exam will be composed of a series of questions related to specific scenarios provided. It is highly recommended that you review the Learning Resources in their entirety prior to taking the Final Exam, since the resources cover the topics addressed. Plan
Group A Scenario:
A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further workup reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.
Response:
According to the Mayo Clinic, Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other human body organs—characterized by sticky mucus, salty taste in the mouth, and sweat. The patients show symptoms like constant cough, thick mucus, wheezing, and intolerance to physical activities. In newborns, you can also notice foul-smelling, greasy stools, poor weight gain, and growth. These symptoms are due to the alteration of genetic material.
The role genetics in cystic fibrosis.
Cystic fibrosis can occur when a patient receives one copy of each gene from both parents, and when these genes do not function well, the mutation runs the risk of being present in their offspring. “It is an autosomal recessive disease meaning that both parents must be a carrier of one deleterious allele of the gene liable for this disorder. For these couples, the risk of having a CF child is, therefore, one-in-four at each pregnancy” (Férec & Scotet, 2020). In group A case study, there is no disease history of the parent, but it mentioned that the 23-month-old son has had multiple chest congestion episodes and hospitalized for pneumonia. In the case study scenario, the child’s symptoms and the brother’s history shows that both parents must have a mutated gene responsible for cystic fibrosis. “A mutation is an inherited alteration of genetic material. Microscopically observable alterations of chromosome number or structure are examples of mutations”. (McCance & Huether,2019). The child presents with symptoms like; many episodes of crying after eating despite having a good appetite bu is not gaining weight, belly gets all swollen sometimes, and baby’s mouth tastes salty. People with cystic fibrosis have a higher than average salt level in their sweat because of the obstruction of the transport of negatively charged chloride ions that controls water in and out of the tissue.
The physiologic response to the stimulus
At the cellular level for patients with cystic fibrosis, there is an obstruction of the transport of negatively charged chloride ions that controls water in and out of the tissue needed for the formation of mucus. According to the article from Genetics Home Reference, the CFTR gene is a protein called the cystic fibrosis transmembrane conductance regulator. This protein acts as a channel across the membrane of cells that create mucus, sweat, saliva, tears, and digestive enzymes. The channel carries negatively charged particles called chloride ions into and out of cells. The transport of chloride ions facilitates control of water movement in the tissues, which is needed to make thin, freely flowing secretions. Mucus is a slippery secretion that lubricates and protects the airways’ lining, digestive system, reproductive system, and other organs and tissues. The CFTR protein also controls the function of different channels, such as those that movement of positively charged particles called sodium ions across cell membranes, which is for organs such as the lungs and pancreas. The mutations in the CFTR gene alters the making and formation of the chloride channel. All these changes prevent the medium from functioning well, impairs the movement of chloride ions and the movement of water into and out of cells. As a result, cells that line the pathways of the lungs, pancreas, and other organs produce thick and sticky secretions that obstruct the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis.
The cell involved
The epithelial cell is involved in this process; the CFTR gene mutation leads to the digestive and respiratory system dysfunction. “CF epithelial cells display abnormal ion transport responses when stimulated by cAMP-mediated agonists. cAMP-dependent signaling is intact in CF cells, and the characteristic cellular CF phenotype correlates with CFTR’s ability to undergo regulatory phosphorylation by protein kinases” (Cohn, 2005).
In males, abnormal intraluminal mucus causes congenital absence of vas deferens and male infertility. According to health prep, other characteristics like family history, chronic infection, Hemoptysis, and bronchiectasis are associated with widening and scarring of the lungs due to cystic fibrosis. This injury done to the bronchial tubes leads to symptoms like wheezing, persistent cough, breathing problems, chest pain, tiredness, and no weight gain.
Reference
Auerbach, D. I., Staiger, D. O., & Buerhaus, P. I. (2018). Growing Ranks of Advanced Practice Clinicians – Implications for the Physician Workforce. New England Journal of Medicine, 378(25), 2358–2360. https://doi-org.ezp.waldenulibrary.org/10.1056/NEJMp1801869
Cohn JA. Reduced CFTR function and the pathobiology of idiopathic pancreatitis. J Clin Gastroenterol. 2005;39(4 Suppl 2):S70-S77. doi:10.1097/01.mcg.0000155522.89005.bf
Férec, C., & Scotet, V. (2020). Genetics of cystic fibrosis: Basics. Archives de Pédiatrie, 27(Supplement 1), S4–S7. https://doi-org.ezp.waldenulibrary.org/10.1016/S0929-693X(20)30043-9
Green, D. M., Collaco, J. M., McDougal, K. E., Naughton, K. M., Blackman, S. M., & Cutting, G. R. (2012). Heritability of Respiratory Infection with Pseudomonas aeruginosa in Cystic Fibrosis. The Journal of Pediatrics, 161(2), 290–295. https://doi-org.ezp.waldenulibrary.org/10.1016/j.jpeds.2012.01.042
Genetic Home Reference. (2020, August 17) National Institute of Medicine: CFTR gene
cystic fibrosis transmembrane conductance regulator. Retrieved from: https://ghr.nlm.nih.gov/gene/CFTR
HealthPrep. (2020). Causes, Risk Factors and Complications of Cystic Fibrosis. Retrieved from: https://healthprep.com/articles/conditions/causes-risks-complications-cystic-fibrosis/
Hedgecoe, A. M. (2003). Expansion and uncertainty: cystic fibrosis, classification and genetics. Sociology of Health & Illness, 25(1), 50–70. https://doi-org.ezp.waldenulibrary.org/10.1111/1467-9566.t01-2-00324
Mayo Clinic. (2020, March 14). Diseases and conditions: Cystic fibrosis. Retrieved from 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.). St. Louis, MO: Mosby/Elsevier.