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.
Cystic Fibrosis is a progressive genetic disease that can cause lung infection and limit breathing time. Genetics plays a role in developing the condition, given that CF is a result of a mutation in a single gene (Cutting, 2015). Furthermore, the condition is inherited when the two copies of cystic fibrosis transmembrane conductance regulator (CFTR) gene is passed down to their children (Cutting, 2015). The hallmark pathophysiologic triad of Cystic Fibrosis includes obstruction, infection, and inflammation (McCance & Huether, 2019).
The role genetics plays in the disease:
Cystic fibrosis is an autosomal recessive disorder that affects 70,000 individuals worldwide. The condition primarily affects those of European descent and males, although cystic fibrosis has been reported in all races and ethnicities (Cohen & Prince, 2012). One CF mutation gene from each parent is passed down to the child, which will leave the child with two mutated genes causing them to develop CF and have the signs and symptoms along with the associated complications of CF. In the scenario, the mother asked whether she should have more children; I would suggest genetic counseling as the healthcare provider. I would explain to mom that she and her husband are carriers and 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, a 50 percent (1 in 2) the child will be a carrier but will not have CF and lastly that there is a 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.).
Why the patient is presenting with the specific symptoms described
The infant presents with the above specific symptoms because CF causes the exocrine glands to work incorrectly, leading to significant complications affecting several body systems. Abnormally thick sticky mucus in the lungs and in the ducts of the pancreas in individuals with cystic fibrosis causes obstructions or blockages that lead to inflammation, tissue damage, and destruction of both organ systems. Other organ systems containing epithelia, such as the sweat glands, the biliary duct of the liver, and the intestines, are also affected (Cutting, 2015).
The physiologic response to the stimulus presented in the scenario and why you
think this response occurred
In the above scenario, I identified several stimuli that led to the workup for CF- the taste of
salt when mom kisses the baby and the episodes of crying after eating along with the swollen belly and lack of weight gain despite a good appetite. When the mom kisses the baby, she is tasting the baby’s “salty sweat,” which is related to the defective CFTR of the sweat glands. The defective CFTR prevents Cl ions from entering the cells, and they combine with Na ions forming salt; therefore, the mom says the kiss is salty. The other stimuli (crying after eating and swollen belly, and poor weight gain) are related to the defective CFTR found in the digestive ducts of the
gallbladder and pancreas right where they meet the stomach and small intestines. The digestive
enzymes cannot flow into the duodenum to aid in the digestion of nutrients such as fat-soluble
vitamins (A, D, E, and K) and proteins, leading to malnutrition and poor weight gain. Mom also says the baby has a swollen belly sometimes. This distention/bloating and crying (baby’s way of
expressing abdominal pain) can be due to too much bacteria in the intestines. However, mom
does not report watery stool. It may be that the baby has distal intestinal obstruction syndrome
(DIOS). The baby will present with “colicky abdominal pain and distension due to a sticky mass
of intestinal contents and mucosa in the small intestine. It impacts approximately 16–21 % of
patients with CF”(Kelly & Buxbaum, 2015, p. 1906).
The cells that are involved in this process
According to Cutting (2015), a “variant (p.Phe508del; also known as F508del in legacy
nomenclature) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was
found to be the most common cause of cystic fibrosis” (p. 45), and it is responsible for the
defective transport of chloride ions across airway epithelial tissues.
How another characteristic (e.g., gender, genetics) would change your response
As the healthcare provider, characteristics or clues that would change or alter my response would most likely be the history of the older 23-month-old brother. If I were the provider for the older brother, his history would have led me to test him and screen the sister at birth. I would likely be attuned to this possible diagnosis, especially if the family is Caucasian, as CF is most commonly found in males of European descent (Cohen & Prince, 2012). The brother’s symptoms of “chest congestion” and having had “pneumonia” are in line with the diagnosis of CF. CF’s Cardinal features of CF involve the respiratory system include “persistent cough or wheeze, excessive sputum production, and recurrent or severe pneumonia”(Mccance & Huether, 2019, p. 1221).
CF genetics: The basics. (n.d.). CF Foundation. Retrieved, November 30th, 2021 from https://www.cff.org/What-is- CF/Genetics/CFGenetics-The-Basics/
Cohen, T., & Prince, A. (2012). Cystic fibrosis: A mucosal immunodeficiency syndrome. Nature
Medicine, 18(4), 509–519. https://doi.org/10.1038/nm.2715
Cutting, G. R. (2015). Cystic fibrosis genetics: From molecular understanding to clinical
application. Nature Reviews Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849
Kelly, T., & Buxbaum, J. (2015). Gastrointestinal manifestations of cystic fibrosis. Digestive
Diseases and Sciences, 60(7), 1903–1913. https://doi.org/10.1007/s10620-015-3546-7
Mccance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in
adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
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Discussion Response: Cellular Processes and the Genetic Environment
Hi Janet, your discussion post presents an informative analysis of your case scenario and how it relates to cellular processes and the genetic environment. I like that your case presents demographic information that offers medically relevant demographic information that does not violate information privacy regulations. In addition, I like that you focus on cystic fibrosis as the patient is diagnosed with the condition. The discussion on the genetics of cystic fibrosis shows that it is a genetic disease resulting from the mutation of a single gene, specifically mentioning the cystic fibrosis transmembrane conductance regulator (CFTR) gene inherited from both parents. Besides that, I like that you present a discussion on the population statistics of the disease, reporting on the population affected and probability of inheritance or acting as a carrier. Also, I like that you link the reported physiological response to cystic fibrosis (salty when kissed). Furthermore, I like that your discussion explores the cells involved in the psychological response. Moreover, I like that your discussion explores how other demographic characteristics of the patient can change the understanding of the case and diagnosis. Still, I feel that the discussion can be improved by including differential diagnoses. For instance, the patient has presented respiratory problems affecting the airway, which could be linked to other medical conditions like the common cold, asthma, acute bronchitis, chronic bronchitis, primary ciliary dyskinesia (Kartagener syndrome), bronchiectasis, emphysema, foreign body aspiration, bronchiolitis, pneumoconiosis, and interstitial lung disease (Kliegman et al., 2017). Also, the patient presents symptoms affecting the gastrointestinal tract with the differential diagnosis being gastroesophageal reflux. Also, there are some autoimmune effects with the differential diagnosis being sarcoidosis. These differential diagnoses could offer an alternative explanation for the reported symptoms (Broaddus et al., 2021). Overall, the discussion has been well presented but would be improved by including the mentioned suggestions.
Broaddus, C., Ernst, J., King Jr., T., Lazarus, S., Sarmiento, K., Schnapp, L., Stapleton, R., & Gotway, M. (Eds.) (2021). Murray & Nadel’s Textbook of Respiratory Medicine (7th ed.). Elsevier, Inc.
Kliegman, R., Toth, H., Bordini, B., & Basel, D. (2017). Nelson Pediatric Symptom-Based Diagnosis. Elsevier Health Sciences.