A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic
Scenario 2: 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.
RE: Discussion – Week 1
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Scenario 2: 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.
As mentioned in this scenario, the work up on the 6-month-old little girl revealed a diagnosis of cystic fibrosis. Cystic fibrosis (CF) is an inherited genetic disorder that causes severe damage to the lungs, digestive system, and other organs in the body (“Cystic fibrosis – Symptoms, and causes,” 2020).
CF affects about 35,000 people in the United States (“Cystic fibrosis,” 2020). CF is prevalent in 1 in every 2500 Caucasian live births and is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Kelsey et al., 2019, p. xx). CFTR is a large protein of more than 1400 amino acids separated into 2 homologous halves, each containing 6 membrane-spanning segments and a nucleotide-binding domain (Kelsey et al., 2019, p. xx). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary to produce thin, freely flowing mucus (“CFTR gene: MedlinePlus genetics,” n.d.). For those with CF, salt cannot move as it normally does through the cells that line the sweat duct (Editorial Team, 2019). Salt is then excreted in the sweat and explains why the baby tasted salty when her mother kissed her.
Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis (“CF genetics: The basics,” n.d.). A person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier. About 10 million people in the United States are CF carriers. CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF carriers have a child together, the chances are 25 percent (1 in 4) the child will have CF, 50 percent (1 in 2) the child will be a carrier but will not have CF, 25 percent (1 in 4) the child will not be a carrier of the gene and will not have CF (“CF genetics: The basics,” n.d.). So, I would discuss with the mother that if she chooses to have another child with someone who also has the CF gene, there is a 1-in-4 (25%) chance that the baby will CF.
Cystic fibrosis affects the intestines, pancreas, and liver. Because the digestive fluids are thicker in those with CF, this can block the intestines and cause constipation and abdominal discomfort. This can also lead to an obstruction. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth (“Cystic fibrosis: MedlinePlus genetics,” n.d.). When ducts in the liver cannot drain, the bile ducts can become blocked, which will lead to inflammation of the liver and, in this case, swelling of the baby’s abdomen. When the thick mucus blocks the ducts within the pancreas, the enzymes in food are not able to be broken down to reach the small intestines to break down food and absorb nutrients leading to an inability to gain weight (“cause and impact of cystic fibrosis (CF),” n.d.).
The Her mother mentioned that her 23-month-old son has had multiple chest
congestion episodes and was hospitalized once for pneumonia. Most people with CF are diagnosed by age 2 thanks to newborn screening tests (“Role of genetics in CF,” n.d.). It is my guess that he may have allergies, asthma or he may go to daycare where he is exposed to other children with colds that contribute to these episodes and hospitalization.
References
CF genetics: The basics. (n.d.). Cystic Fibrosis Foundation | CF Foundation.
Cystic fibrosis – symptoms, and causes. (2020, March 14). Mayo Clinic.
Cystic fibrosis. (2020, June 29).
Cystic fibrosis: MedlinePlus genetics. (n.d.). MedlinePlus – Health Information from the National Library of Medicine.
Editorial Team. (2019, August 16). Salty skin and sweat. Cystic-Fibrosis.com.
Kelsey, R., Manderson Koivula, F. N., McClenaghan, N. H., & Kelly, C. (2019). Cystic fibrosis-related diabetes: Pathophysiology and therapeutic challenges. Clinical Medicine Insights: Endocrinology and Diabetes, 12, 117955141985177.
Role of genetics in CF. (n.d.). Cystic Fibrosis Foundation | CF Foundation.
The cause and impact of cystic fibrosis (CF). (n.d.). CFSource.
What is cystic fibrosis? 9 symptoms to be aware of. (2021, January 4). Entirely Health.
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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!
Submission and Grading Information
Grading Criteria
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
Assignment
Practicum Manual Acknowledgment
The Practicum Manual describes the structure and timing of the classroom-based and practicum experiences and the policies students must follow to be successful in the nurse practitioner (NP) specialties.
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.
Practicum – Upcoming Deadline
In the Nurse Practitioner programs of study (FNP, AGACNP, AGPCNP, and PMHNP) you are required to take several practicum courses. If you plan on taking a practicum course within the next two terms, you will need to submit your application via .
For information on the practicum application process and deadlines, please visit the web page.
Please take the time to review the for your courses.
Please take the time to review the practicum manuals, FAQs, Webinars and any required forms on the web page.
Next Week
