The physiologic response to the stimulus presented in the scenario and why you think this response occurred

The physiologic response to the stimulus presented in the scenario and why you think this response occurred

 The Role Genetics Plays in the Disease

Genetics play an important role in this disease, according to an article published in Pub

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

Med titled Cystic fibrosis genetics: from molecular understanding to clinical application states that due to a defective epithelial cell that is defective, this cell is inherited and is an autosomal recessive gene. The genetic information that is in the cell, which is the recipe for the cell to make proteins (Cutting, 2015).  According to Pathophysiology of disease: An introduction to clinical medicine, if a person receives a cystic fibrosis transmembrane conductance regulator gene (CFTCR), or a person can receive two copies of the CFTCR gene. This copy has a mutation of the cystic fibrosis gene, furthermore these two copies of the CFTR gene have stored a mutation which is the on chromosome seven. So, when the recipe is being presented to the cell to be made, the genetic information is then stored into the deoxyribonucleic acid which is known as DNA.  This is part of the twenty-three pairs of chromosomes, but on the seventh chromosome, the cystic fibrosis recipe is stored in that chromosome. In the DNA, where the CFTCR gene recipe lives, if there is one copy of the recipe than the gene will not show up in the person but will be a carrier but if there are two copies of the recipe being stored in the chromosome than the cystic fibrosis gene than the person will have cystic fibrosis (McCance at el., 2019).

 Why the Patient is Presenting with the Specific Symptoms Described

The baby’s symptoms included salty skin, a swollen stomach on occasion, and a failure to gain weight normally. According to an article published in the Journal of Cystic Fibrosis titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, epithelia make up the major organ systems. The sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract are all affected in this patient. The article goes on to explain that the patient suffers from malnutrition and does not grow normally as a result of the loss of pancreatic function. As a result, enzyme replacement is critical for this patient in order to prevent cell clogging caused by an inability to breakdown a key nutrient (Cutting, 2015).

After reading different sources, I was able to breakdown the pathology behind this patient’s symptoms. This disease starts with the CFTR gene protein being mutated in the chromosome seven, which there are two copies of the recipe, this mutation causes the decrease of chloride acceptance and ion being transported, then this makes the absorption of water to increase which throws off ciliary from completing the job and there is mucus that is dry, this is what causes the skin to be salty of the baby. The stomach inflammation and swelling that is being experienced, is due to the CFTR gene protein not having the right recipe present to the epithelial cell, this is causing malfunction by changing the reabsorption of the sodium, chloride and potassium in the cell, the recipe tells the cell to keep the sodium, chloride and potassium outside of the cell, this causes a back-up of outside of the cell structure and blocks the cell from absorbing the nutrients especially, proteins, fats and vitamins that are fat soluble.

The Cells that are Involved in this Process

The cells involved in this process begin with epithelial membranes found in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, cystic fibrosis is caused by epithelial cell dysfunction, which leads to inflammation and an inability to create homeostasis due to the CFTR gene’s constant inflammation. Furthermore, the epithelial cells fail and undergo apoptosis as a result of the inflammation that occurs in the endoplasmic reticulum (Soleti at el., 2013).

How another characteristic (e.g., gender, genetics) would change your response

For cystic fibrosis, it is important to understand that this would not be a disease if the parents did not carry the gene. The

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