NURS 6501 Week 1 Discussion

Scenario: Week 1 Discussion Due Week 1

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.

Assignment Instructions 

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.

Sample Discussion 

Genetics in Cystic Fibrosis

Cystic Fibrosis (CF) is an autosomal recessive disease, meaning that both parents, although neither express traits of the disease, carry the gene passed onto the child in this scenario. This six-month-old female child is considered the proposita, or the first female in the family to be diagnosed with a specific disease (McCance & Huether, 2019). The 23-month-old son also having chest congestion is concerning, and the child should also be tested for CF. Although it would be uncommon for this child to have CF, because, most often, only 25% or one out of four children would be affected, the whole family should undergo genetic testing and carrier detection tests (McCance & Huether, 2019).

According to the Punnett Square for the Mating of Heterozygous Carriers, both parents are likely unaffected carriers of CF. If they were to have four children, one would be unaffected and not be a carrier of the gene, two would be unaffected carriers of the gene, and one child would be affected with CF. Males and females are also equally affected by CF. A family history for the potential of consanguinity, or inbreeding, should also be assessed. Although uncommon in most areas of the United States, this must be ruled out (McCance & Huether, 2019).

Clinical Presentation

In CF, the most prominent issues are with digestion and the lungs. Because of the inappropriate transport of chloride ions in the body, sodium (salt) imbalance causes blockages in digestive organs and thick mucus to fill the lungs (McCance & Huether, 2019). This child is experiencing colic and abdominal distension because of the inability to digest foods properly. The salty taste of the baby can be explained by the excess salt caused by the ineffective transport of chloride throughout the body, as it is excreted through the sweat on the skin. Salt excretion on the skin is caused by a protein product formed in epithelial cells, which make up the skin (McCance & Huether, 2019).

Why Response Occurred

In this scenario, this baby is six months old. According to the video on immune function, a baby will maintain its mothers’ inherited immunity for six months to one year after birth (Soo, 2018). This child has also been exposed to other illnesses from her brother, who is 23 months old. His history of vaccines, daycare exposure, or exposure to other children should be evaluated. At this time, the six-month-old child is beginning to lose inherited immunity from her mother but also has possibly been eating foods other than formula/breastmilk, which would be more easily digested than solid foods. This could have started the colic symptoms, and the child’s diet should be further evaluated.

Other Possible Responses

As previously mentioned, CF affects males and females equally, and the method of genetic transmission is well understood. No other characteristics would change my response to this specific scenario. I think further workup by the HCP is warranted, a complete family history is needed, and the entire family should undergo genetic testing.

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.

Soo, P. (2018, July 28). Pathophysiology Ch 10 alterations in immune function. Retrieved from https://www.youtube.com/watch?v=Jz0wx1-jTds

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