NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes
Case Study Scenario 2: Cystic Fibrosis
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 work-up 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 NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
Cystic fibrosis is an autosomal recessive inherited disease. According to McCance & Huether (2019), approximately 1 in 25 whites carry one copy of an allele that can cause cystic fibrosis. Because an individual must be homozygous for a recessive allele to express the disease, the carriers are phenotypically normal (p. 151). The cystic fibrosis gene is located on chromosome 7. More than 2000 different variants of this gene are known to produce cystic fibrosis. The cystic fibrosis transmembrane conductance regulator gene mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator protein (McCance & Huether 2019, p.1220). Cystic fibrosis newborn screening is the optimal method to diagnose the disease during the asymptomatic period. The early diagnosis is associated with improved physical development and slower lung deterioration due to the lower frequency of infections (Olszowiec-Chlebna et al., 2021).
In this scenario, the mother believes the baby may be suffering from colic due to crying after eating. With cystic fibrosis presentation of oily-looking stool and abdominal distention are early stages of the disease. According to McCance & Huether (2019), 85% of individuals with cystic fibrosis, present early in life with pancreatic insufficiencies, which causes nutrient malabsorption and failure to thrive in children (p. 1380) NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
The mother makes a comment to the doctor that the baby tasted salty when kissed. This happens due to the dysfunction of the cystic fibrosis transmembrane regulator protein results in altered sodium, chloride, and potassium reabsorption, all of which remain external to the surface of the epithelium membrane with reduced clearance from tubule structures lined by affected epithelia (McCance & Huether, 2019, p. 1380).
This deficiency in chloride ions leads to a salt imbalance that results in secretions of abnormally thick, dehydrated mucus. Some of the digestive organs, particularly the pancreas, becomes obstructed, causing malnutrition, and the lungs become clogged with mucus, making them highly susceptible to bacterial infections, especially Pseudomonas (McCance & Huether, 2019, p. 151). The typical features of cystic fibrosis lung disease are mucus plugging, chronic inflammation, and chronic infection of the small airways (McCance & Huether, 2019, p. 151).
Clinical manifestations involve the respiratory and gastrointestinal systems. Respiratory symptoms include persistent cough or wheeze, excessive sputum production, and recurrent or severe pneumonia. Digital clubbing may appear in the early stages; in the latent stage development of the barrel chest, or persistent crackles occur (McCance & Huether, 2019, p. 1221). Approximately 8% of CF patients will present with haemoptysis during a pulmonary exacerbation, and it is speculated that 1 in 100 CF patients will have a massive haemoptysis episode each year, with an associated two‐year mortality risk ranging from 5.8% to 16% (Gavioli & Aung, 2020) NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
Gavioli, E., & Aung, C. C. (2020). Haemoptysis management in cystic fibrosis: A case report and treatment pathway. Journal of Clinical Pharmacy and Therapeutics, 45(4), 845-847. http://doi:10.1111/jcpt.13179
McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children. St. Louis, MO: Elsevier Mosby.
Olszowiec-Chlebna, M., Mospinek, E., & Jerzynska, J. (2021). Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years’ experience in Lodz Voivodship. Italian Journal of Pediatrics, 47(1). http://doi:10.1186/s13052-021-01040-5
Week 1: Cellular Processes and the Genetic Environment
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 NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
- Evaluate cellular processes and alterations within cellular processes
- Evaluate the impact of the genetic environment on disease
- Learning Resources
Discussion: Alterations in Cellular Processes
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.
- 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 NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
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!
Submission and Grading Information
To access your rubric:
Week 1 Discussion Rubric
Post by Day 3 of Week 1 and Respond by Day 6 of Week 1
To Participate in this Discussion:
Week 1 Discussion
Practicum Manual Acknowledgment
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Click here and follow the instructions to confirm you have downloaded and read the entire MSN Nurse Practitioner Practicum Manual and will abide by the requirements described in order to successfully complete this program.
What’s Coming Up in Week 2?
Photo Credit: [BrianAJackson]/[iStock / Getty Images Plus]/Getty Images
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 NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.
Practicum – Upcoming Deadline
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To go to the next week:
I really enjoyed reading your post. I always found it interesting how one of the findings with CF is a “salty” taste which causes “high
levels of salt in the sweat of patients with cystic fibrosis suggested an abnormality in electrolyte transport from the sweat gland” (Yu, 2021).
I had a coworker who had given birth many years ago long before I became a nurse. and I remember her telling me her daughter had a
salty taste when she kissed her little girl. I many years later learned that the little girl had be diagnosed with CF. Many years ago, before
there was ample research like we have now, the life span of an individual with CF was not ling at all. Now, with all the
technology and research, a person living with CF is expected to live approximately 40 years (Naehrig & Naehrlich, 2017) which still is
terribly young for anyone to lose their life, however, for this disease is quite an accomplishment from many years ago.
Great post and fanrastic information. I truly hope at some point research can find a cure for this awful disease. My son has a
classmate, 14 year old wonderful girl who suffers from this disease. Her PFT’s are always at a great percentage. Every now and then she
has to be hospitalized for treatment when she is ill. She is very active with sports and overall, she has a wonderful happy and active life.
Naehrig, S., Chao, C. M., & Naehrlich, L. (2017). Cystic Fibrosis. Deutsches Arzteblatt international, 114(33-34), 564–
Yu E, Sharma S. Cystic Fibrosis. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island
(FL): StatPearls Publishing; 2021 Jan-. Available from:
Your post on cystic fibrosis is very informative. Cystic fibrosis is an inherited disease that causes severe injury to the lungs, digestive system, and other organs in the body. According to the May Clinic, the thick and sticky mucus associated with CF clogs the tubes that carry air in and out of your lungs which can cause signs and symptoms such as; persistent cough, wheezing, repeated lung infection, exercise intolerance, and sinusitis. Also, the thick mucus can block tubes that carry digestive enzymes from the pancreas to your small intestine. Without these digestive enzymes, the intestines can’t completely absorb the nutrients in the food one eats which can cause signs and symptoms such as; foul-smelling greasy stools, poor weight gain, intestinal blockage, and chronic or severe constipation (Mayo Clinic, 2020). In the scenario, the mother would like information about CF and if she should have another child. A child will be born with CF only if they inherit one CF gene from each parent. A parent can be a CF carrier, and pass the CF gene on to their child. Once parents have had a child with CF, they have a 1 in 4 chance that each additional child will be born with CF. This means there is a 3 out of 4 chance that additional children won’t have CF. But these children may be carriers of the CF gene (Stanford Children’s Hospital, n.d.) NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes. Great post!
Mayo Foundation for Medical Education and Research. (2020, March 14). Cystic fibrosis. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.
The Cystic Fibrosis Center at Stanford. (n.d.). Genetics and CF. The Cystic Fibrosis Center at Stanford. https://med.stanford.edu/cfcenter/education/english/Genetics.html NURS 6501: Advanced Pathophysiology Discussion: Alterations in Cellular Processes.