Answer discussion 2 patho

Respond: your colleagues, 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

Respond in 2 paragraphs with 4 to 6 sentences. References minimum 3, and not more than 5 years ago.

   Alterations in Cellular Processes

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

Cystic Fibrosis (CF) is a genetic progressive multiorgan disease that affects the airways, digestive tract, and reproductive organ (McCance & Huether, 2019). CF is a disease that results in too much production of mucus that is thick and sticky and limits the ability to breathe over time (Cystic Fibrosis Foundation, n.d.).To better understand CF, there is a need to know how the disease affects the human body, especially in the case of the 6-month-old baby mentioned in the case scenario, the role genetics plays in the disease, the signs, and symptoms presented with the disease, the physiology response, the cells involved in the process, and other risk factors associated with the disease. Knowing all of these will guide the healthcare provider to manage the disease and provide an appropriate treatment plan.

Genetic Role in Cystic Fibrosis

Cystic fibrosis is an autosomal recessive hereditary disease that results from a defective CF gene located on chromosome 7 out of the 23 pairs of chromosomes that children inherit from their parents (McCance & Huether, 2019). The cystic fibrosis transmembrane conductance regulator (CFTR) gene contains a slight abnormality called a mutation which is a change that occurs in our DNA sequence either due to mistakes when the DNA is copied or as a result of environmental factors such as UV light and cigarette smoke (McCance & Huether, 2019). Such mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator (CFTR) protein (McCance & Huether, 2019). The CFTR protein is present as an activated chloride channel on the epithelial cells of the body and is responsible for controlling the flow of salt and fluids that enter and exit the cells (McCance & Huether, 2019). A person with CF disease, have abnormal or no CFTR protein at all. As a result of these changes, there is an alteration in the chloride channel, making it hard for chorine to go out of the cell surface, which hinders the cells ability to secrete water and thereby results in thick and sticky mucus that predisposes the body to infections (McCance & Huether, 2019). CF results in death from respiratory failure when the thick, viscous secretions cause blockage to the lungs (McCance & Huether, 2019). People with CF have inherited two copies of the defective CF gene, one copy from each parent, and both parents must have at least one copy of the defective gene (Cystic Fibrosis Foundation, n.d.). People with only one copy of the defective CF gene are called carriers and do not have the disease (Cystic Fibrosis Foundation, n.d.).Each time two CF carriers have a child, the chances are 25 percent (1 in 4) the child will have CF, 50 percent (1 in 2) the child will be a carrier and will not have CF, and 25 percent (1 in 4) the child will not be a carrier and will not have CF (Cystic Fibrosis Foundation, n.d.).

Symptoms of Cystic Fibrosis

The most common clinical manifestations seen with CF affect the respiratory and gastrointestinal systems (McCance & Huether, 2019). According to the scenario presented, the 6- month-old baby cries after eating, has no weight gain despite a good appetite, tastes salty when kissed, and has abdominal distention, which all indicate gastrointestinal symptoms related to CF. The thick, sticky secretion created from the CFTR protein causes bowel movement to get stuck in the baby’s ileus and causing an obstruction that results in abdominal distention that causes the baby to cry after eating (McCance & Huether, 2019). In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and essential nutrients, resulting in the baby’s malnutrition and poor growth (Cystic Fibrosis Foundation, n.d.).The CFTR protein maintains a balance of fluid and salt in the cell (McCance & Huether, 2019). However, when a mutation occurs in the gene, CFTR functions poorly, and salt is not transported correctly, which explains the salty taste in the baby’s skin (McCance & Huether, 2019).

Physiologic Response in Cystic Fibrosis

The physiologic response seen in the scenario is a result of the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the epithelial cells. Cystic fibrosis (CF) is caused by a mutation in the CFTR gene (Brown et al., 2017). The CFTR protein produced by this gene regulates the movement of chloride and sodium ions across epithelial cell membranes (Brown et al., 2017). When mutations occur in one or both copies of the gene, ion transport is defective (Brown et al., 2017). It results in a buildup of thick mucus throughout the body, leading to respiratory insufficiency, along with many other systemic obstructions and abnormalities which explains the gastrointestinal symptoms manifested by the 6- month- old baby (Brown et al., 2017).

Cells Involved in Cystic Fibrosis

The cystic fibrosis transmembrane conductance regulator (CFTR) protein is an activated chloride channel present on the surface of many types of epithelial cells, including those lining airways, bile ducts, the pancreas, sweat ducts, paranasal sinuses, and the vas deferens (McCance & Huether, 2019). CFTR controls the flow of water and salt in and out of the body's cells, and changes cause mucus to become thickened and sticky (University of Rochester Medical Center, 2020). This first affects the small airways in the lungs, but over time, it can affect all airways (University of Rochester Medical Center, 2020). The thick sticky mucus in the pancreas prevents the release of digestive enzymes that help the body absorb food and essential nutrients (Cystic Fibrosis Foundation, n.d.).

Other Risk Factors Associated with Cystic Fibrosis

A person may have an increased risk for cystic fibrosis because of his or her family history and genetics, gender, and race or ethnicity (National Institutes of Health, n.d.). A person is at higher risk for having cystic fibrosis if one or both parents is a carrier of a mutated CFTR gene or has cystic fibrosis (National Institutes of Health, n.d.). A person is also at higher risk if a sibling, half-sibling, or first cousin has cystic fibrosis (National Institutes of Health, n.d.). A child born to parents who are both carriers of CF has a 25% chance of inheriting the disease, a 25% chance of not inheriting the disease, and a 50% chance of being a carrier of the disease (Cystic Fibrosis Foundation, n.d.). Cystic fibrosis is most common among the Caucasian of the Northern European descenders, which makes them the highest population of 1 out of 3500 newborns diagnosed with CF (Cystic Fibrosis Foundation, n.d.).CF is less commonin Hispanics and African Americans (National Institutes of Health, n.d.). It is relatively uncommon in Asian Americans (National Institutes of Health, n.d.).

Conclusion

The most common risk factor for cystic fibrosis is genetics or hereditary. It is imperative that healthcare professionals remain knowledgeable about the disease process and other contributing factors of the disease in order to manage the disease, provide appropriate treatment plan, and education. I have explained the role genetics plays in the disease, the signs, and symptoms presented with the disease, the physiology response, the cells involved in the process, and other risk factors associated with the disease in the above paragraphs.

References

Brown, S. D., White, R., & Tobin, P. (2017). Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. Journal of the American Academy of PAs, 30(5), 23-27.

Cystic Fibrosis Foundation. (n.d.). What is cystic fibrosis?  https://www.cff.org

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

National Institutes of Health. (n.d.). Cystic fibrosis.  https://www.nhlbi.nih.gov