Discussion: Alterations in Cellular Processes
Cystic Fibrosis (CF) is known as a single-gene disease inherited from an autosomal recessive trait from both parents that affects the body’s organs, but typically the respiratory and digestive system are the most effected. This mutation of the CF gene is commonly found in the European culture. Studies show that CF is more prevalent among whites with a 1 in 2,500 chance the offspring from a Caucasian couple will inherit the gene. Although the prevalence of CFTR protein mutations differ among vast populations, the most common will have at least one copy of the mutation with a homozygous prevalence. Mutations in the cystic fibrosis transmembrane conductance regulator disrupts the relationship between positively charged sodium and negative charged chloride ions. Sodium and chloride play an important role in that the two ions are responsible the transport and reabsorption of water in tissues the body, which is necessary for the production of free flowing mucus (Turcios, 2020). Mucus is important in the body because it lines the pathways of organs and tissues.
In the case of the scenario, the infant presenting with “salty” skin after kissing and having a swollen belly after meals indicates this is more than just colic. At the cellular level, the CF gene causes epithelial cells to produce the mutation of the CFTR protein. This protein is found in cells lining the lungs, digestive tract, sweat glands, and genitourinary system and is responsible for controlling the flow of water and salts throughout the body’s cell. The mutation in this is, the CFTR does not allow the balanced removal through proper channels of sodium and chloride to filtrate as necessary, essentially causing a backup and thickening or dehydrating of secretions. As mentioned earlier, CF affects the sweat glands (U.S. National Library of Medicine, 2020). With CF, salt cannot move as it normally does through the cells that line the sweat duct. With the impairment of the mobility of the cilia, mucus attaches to the pathway along with bacterial and other organisms (Huether & McCance, 2019). Salt travels to the skin’s surface with the water and is not reabsorbed which would be the reason the mother states the baby tastes “salty”.
Related to bowel function, symptoms of CF can include belly pain from severe constipation, increased gas, bloating, distended abdomen, nausea or loss of appetite, pale foul-smelling stools or weight loss (Reed & Shores, 2020). The mother states that the baby has a good appetite, but not gain weight. With CF, there is a malabsorption of fat, protein, and fat-soluble vitamins that results in insufficient production of pancreatic enzymes. With the infant’s pancreas’s functional ability compromised, the baby cannot properly absorb the proper nutrients to gain and maintain a healthy weight (Sabharwal, 2016). We should be letting mother know, baby should have pancreatic enzyme replacement therapy (PERT) to counteract the malabsorption.
The mother should consider testing her 23-month-old son for CF. She states he has had chest congestion, which could very well be related to CF and just has not been diagnosed. CF causes a decrease in airway clearance, increasing the possibility of a respiratory tract infection, which could contribute to her son’s hospital visit (Huether & McCance, 2019, p. 908). Researchers have shown that females are more likely to succumb to this disease than men. Although this gender disparity is not researched often, it has been hypothesized that the disease is hormone mediated. This could account for the 23-month-old to not show symptoms as soon as the 6-month-old (Harness-Brumley, Elliot, Rosenbluth, Raghaven, & Jain, 2014). With mother already having two children with CF, it would be beneficial for her and her partner to undergo carrier screening, if not already performed. This would be something to consider in a family if contemplating extending their family. If considering, genetic counseling would also be of assistance. If both partners are positive for the CF mutation, there are options such as accepting the risk, adoption, and in vitro fertilization, with the use of preimplantation genetic diagnosing (The American College of Obstetricians and Gynecologists, 2017). As providers, it is our responsibility to keep the patient informed up front regarding any future pregnancies.
References
Harness-Brumley, C. L., Elliot, A. C., Rosenbluth, D. B., Raghaven, D., & Jain, R. (2014, December 1). Gender differences in outcomes of patients with cystic fibrosis. Journal of Women’s Health, 23(12), pp. 1012-1020.
Huether, S. E., & McCance, K. L. (2019). Pathophysiology: the biologic basis for disease in adults and children. St. Louis, Missouri: Elsevier.
Reed, A., & Shores, D. (2020, February 1). Gastrointestinal manifestations of cystic fibrosis: a primer for pediatricians. Contemporary Pediatrics, 37(2), 12-16.
Sabharwal, S. (2016, January). Gastrointestinal manifestations of cystic fibrosis. Gastroenterol Hepatol (NY), 12(1), 43-47.
The American College of Obstetricians and Gynecologists. (2017, June). FAQs171. Retrieved from Women’s Health Care Physicians: https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis?IsMobileSet=false
Turcios, N. L. (2020, February ). Cystic fibrosis lung disease: an overview. Respiratory Care, 65(2), 233-251.
U.S. National Library of Medicine. (2020, February 11). CFTR gene. Retrieved from National Library of Medicine: https://ghr.nlm.nih.gov/gene/CFTR#conditions
Discussion: Alterations in Cellular Processes
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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:
- 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
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!
NURS_6501_Discussion_Rubric
Excellent Good Fair Poor Main Posting Answers all parts of the Discussion question(s) with reflective critical analysis and synthesis of knowledge gained from the course readings for the module and current credible sources.
Supported by at least three current, credible sources.
Written clearly and concisely with no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
Responds to the Discussion question(s) and is reflective with critical analysis and synthesis of knowledge gained from the course readings for the module.
At least 75% of post has exceptional depth and breadth.
Supported by at least three credible sources.
Written clearly and concisely with one or no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
Responds to some of the Discussion question(s).
One or two criteria are not addressed or are superficially addressed.
Is somewhat lacking reflection and critical analysis and synthesis.
Somewhat represents knowledge gained from the course readings for the module.
Post is cited with two credible sources.
Written somewhat concisely; may contain more than two spelling or grammatical errors.
Contains some APA formatting errors.
Does not respond to the Discussion question(s) adequately.
Lacks depth or superficially addresses criteria.
Lacks reflection and critical analysis and synthesis.
Does not represent knowledge gained from the course readings for the module.
Contains only one or no credible sources.
Not written clearly or concisely.
Contains more than two spelling or grammatical errors.
Does not adhere to current APA manual writing rules and style.
Main Post: Timeliness First Response Response exhibits synthesis, critical thinking, and application to practice settings.
Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
Response exhibits critical thinking and application to practice settings.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
Response is on topic and may have some depth.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
Response may not be on topic and lacks depth.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Second Response Response exhibits synthesis, critical thinking, and application to practice settings.
Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
Response exhibits critical thinking and application to practice settings.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
Response is on topic and may have some depth.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
Response may not be on topic and lacks depth.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Participation
Total Points: 100 Cystic Fibrosis
When looking at a disease process there are many things to consider: What role does genetics play in this disease? Why is my patient presenting with specific symptoms? What is the physiologic response for this disease process and why does this occur? What cells are involved? How do gender, genetics, and other characteristics factor into this disease? The purpose of this post is to explore these questions in relation to a 6-month-old little girl being evaluated at a healthcare provider. Testing reveals cystic fibrosis. The child also has a 23-month-old brother presenting with symptoms.
Genetics
Genetics are an important aspect when talking about cystic fibrosis (CF). CF is an autosomal recessive disease, meaning two copies of the disease must be present for the offspring to develop the disease. Genes are paired and the dominant trait becomes the inherited trait. Recessive traits must be one recessive trait from the mother and one recessive trait from the father, paired to form a recessive gene pair. The mother and the father must both carry the gene, and the offspring must get both recessive gene matchups. Your offspring has a 1 in 4 chance of inheriting the disease. Offspring has a 1 in 2 chance (50%) of inheriting the gene from one parent and becoming a carrier for that gene. CF does not discriminate between XX and XY chromosomes, so females and males have an equal chance of developing the disease.
Scenario of the 6-month-old female
In the scenario presented, a child was brought to the provider with symptoms of possible colic, episodes of crying after feeding, not gaining weight when feeding well, intermittent swollen stomach, and salty taste when kissed. Testing was performed and relayed that the child was positive for cystic fibrosis. Newborn screenings test for this disease. Positive screenings paired with positive further testing lead to diagnosis. To properly explain this disease process, we will explore each symptom shown.
CF is a disease process that can affect the airways, digestive tract, and the reproductive organs. A CFTR mutation causes a decrease in chloride secretion and ion transport. This increases sodium absorption and increases water absorption, causing impaired ciliary function and impaired mucus clearance which leads to airway obstructions. This hypersecretion of mucus and decreased clearance leads to chronic bacterial infections, chronic neutrophilic inflammation, and bronchiectasis. This may cause pneumonia. All of these chronic conditions lead to respiratory failure. Respiratory failure is commonly life-threatening with patients with this condition. Common features of CF are mucus plugging, chronic inflammation, and chronic inflammation of the small airways. Hallmark symptoms include the respiratory and gastrointestinal systems. Persistent cough or wheezing, excessive mucus production, and recurrent or severe episodes of pneumonia. Less noticeable symptoms include chronic sinusitis and nasal polyps. Clubbing of the fingers may signal this condition early. Barrel chest and crackles heard while breathing are late signs of CF. Siblings presenting with this disease process may show signs in different ways. The same mutation of the CFTR genotype shows symptoms differently among different organs and this variation influences the progression and survival rates of the disease.
Our young patient has exhibited GI upset and digestive tract irritation, as well as failure to thrive when eating well. Nutritional problems are common with CF. Pancreatic insufficiency and malabsorption of nutrients causes failure to thrive and grow. Abnormal ion transport decreased fluid and bicarbonate secretion in the pancreas and leads to thickened mucus secretion and plugging, leading to autodigestion or atrophy of the cells. This causes the need for exogenous pancreatic enzymes to be digested with meals and snacks to enhance the absorption of nutrients. Diabetes mellitus can develop as a secondary disease caused by the pancreatic complications.
When considering the salty taste upon the mother’s kisses, the increase in sodium absorption cause an increase in sodium to be excreted through sweat. This is a hallmark sign of cystic fibrosis. This symptom can present early in the disease process.
23-month-old brother of patient
Being that cystic fibrosis is life-threatening and often presents in respiratory failure I would encourage the mother to have her son tested for the disease as well. He has been hospitalized for pneumonia, and chronic respiratory problems and pneumonia are symptoms shown with CF. The child should have had a newborn screening that tested for the disease and further testing should be done due to the symptoms shown and a positive sibling. We now know that both parents are carriers of the disease, this means there is a 25% chance their son has the disease as well.
Offspring
The decision to have more children is completely up to the parents of kids. The best practice is to share the likelihood of the disease process being passed on and let them make this decision based on the information provided. Testing and treating the children she has currently is the top priority.
In Summary
Cystic fibrosis is an autosomal recessive disease that has a 25% chance in each child. A child can be a carrier of the disease without exhibiting symptoms. CF affects the airways, digestive tract and the reproductive system. Respiratory involvement can be fatal in patients with CF. This disease process can be symptomatic in many ways. Hallmark symptoms include salty skin, chronic pneumonia, persistent coughing or wheezing, clubbing of fingers, and malnutrition when eating well. Respiratory and gastrointestinal involvement is the most common. Testing is done with newborn screening and further tests. Cells involved include a CFTR mutation. Gender has no effect on the chances of inheriting this disease. If you feel your child may have this disease process is it very important to see your healthcare provider as this disease can be fatal.
References
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and
children (8th ed.). St. Louis, MO: Mosby/Elsevier.
