Cystic Fibrosis Essay

Cystic Fibrosis Essay
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. Cystic Fibrosis Essay

Read a selection of your colleagues’ responses.



Discuss post1: Cystic Fibrosis Discussion 1

    1. 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.
    2. First we should understand what cystic fibrosis (CF) is and how the child inherits this condition. Cystic fibrosis is mainly a pulmonary disease where the lung gets overwhelmed by neutrophils which in turn exacerbates the inflammation process in the absence of pathogenic infections, along with mucus and a dehydrated airway and the ROS (reactive oxygen species) and proteases causes tissue damage (Bezzerri et al., 2019). This gene is on chromosome 7 and has upward towards 2000 different variants to the gene recognized to cause CF (McCance & Huether, 2019). CF primarily affects the Caucasian population, and is relatively common in about 1 out of 2500 births (McCance & Huether, 2019). The median age of CF diagnosis is 4 months, in 2015, 853 new cases were diagnosed with half being 18 years or older (McCance & Huether, 2019, p. 1220). The gene inherited is a recessive, autosomal disease that has a defect in the epithelial chloride ion transport (McCance & Huether, 2019). The reason mom tastes the “saltiness” is due to this altered regulation. Cystic Fibrosis Essay

Each parent would have to be a carrier of the CF gene, where the infant would inherit that copy of this CF mutation gene from each parent of the cystic fibrosis transmembrane conductance regulator (CFTR) (, n.d.). The CFTR protein controls the movement of fluids & salts within and out of the cells, and consequently affects the airways, digestive tract, reproductive system, bile ducts, paranasal sinuses sweat glands, vas deferens, and the pancreas (McCance & Huether, 2019). The baby’s discomfort after eating and poor weight gain, is related to these enzymes in the digestive tract unable to absorb fat-soluble vitamins, proteins or fats from an inadequate production of pancreatic enzymes (Sabharwal, 2017). Gas from the intestinal tract will cause discomfort, pain, decreased appetite, small bowel bacterial growth, constipation and in some cases lead to abnormal swelling (Sabharwal, 2017).

There will be several therapies that will be life long such as pancreatic enzyme replacement therapy to increase absorption of the vitamins and fats within the digestive system. Nutritional management, in order for these children to gain weight they need a higher energy intake of unlimited fat and high caloric intake of between 110-200% that of the normal healthy population (Sabharwal, 2017). According to Bezzerri, et al., (2019) the cystic fibrosis population now lives well into their 40s, compared to just a couple of decades ago when it was just half that, with the advancement of new CFTR modulator drugs. Cystic Fibrosis Essay

Genetic testing on her 23-month-old should have been done, but a work-up is certainly needed seeing as how her son has already had a few episodes of “chest congestion”. Also, the mother’s concern for future children is a valid concern, genetic testing for both her and her husband needs to be completed prior to considering having any other children. Giving the mother information about the Cystic Fibrosis Foundation website and a local support group is recommended, so that she can have better outcomes for her children and family during this journey.


Bezzerri, V., Piacenza, F., Caporelli, N., Malavolta, M., Provinciali, M., & Cipolli, M. (2019). Is    cellular senescence involved in cystic fibrosis? Respiratory Research, 20(1). (n.d.). CF Genetics: The Basics. Genetics-The-Basics/

McCance, K. L., & Huether, S. E. (2019).Pathophysiology: The biologic basis for disease in adults and children(8th ed.). Mosby.

Sabharwal, S. (2017).Gastrointestinal manifestations of cystic fibrosis – pubmed. PubMed.



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 Cystic Fibrosis Essay


Very good post! I agree with your statements, especially the one about genetics. “Your baby has to inherit a gene change for cystic fibrosis from both parents to have cystic fibrosis. If they inherit the gene change from just one parent, they have the gene change for cystic fibrosis, but they don’t have the condition. When this happens, your baby is called a cystic fibrosis carrier” (Cystic Fibrosis and Your Baby. Home. (2021, May). As I was reading the scenario, the biggest hallmark to me that stood out was the salty skin. “People with cystic fibrosis tend to have two to five times the normal amount of salt in their sweat. Parents sometimes notice this symptom of cystic fibrosis first, because they taste the salt when they kiss their child” (Cystic Fibrosis Symptoms & Treatment: Children’s Pittsburgh. Children’s Hospital of Pittsburgh. 2021). The mother’s concern for possibly having children in the future is a valid concern considering cystic fibrosis is genetic so as you stated, I would definitely consider having both parents genetically tested. 


Cystic Fibrosis and Your Baby. Home. (2021, May).

Cystic Fibrosis Symptoms & Treatment: Children’s Pittsburgh. Children’s Hospital of Pittsburgh. (2021). Cystic Fibrosis Essay