Pathophysioly Response #1

Respond to your colleagues 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

At least 2 references in each peer responses!
Cystic fibrosis (CF) is an inherited disease that affects mainly the gastrointestinal system, the reproductive system, and the lungs (McCance & Huether, 2019, pp 2171).  The cystic fibrosis gene “is located on chromosome 7” with more than 2000 variants of the disease.  They are divided into six classes, 1 through 3 being the more severe ones.  The triad of Cystic fibrosis is “obstruction, infection, and inflammation that is evident throughout the gastrointestinal tract and within the airways” (McCance & Huether, 2019, pp 2871).  The gastrointestinal problems are caused by the CF transmembrane regulator (CFTR) protein, “which is located on epithelial membranes and regulates chloride and sodium ion channels (McCance & Huether, 2019, pp 2870). You can find that protein through the airways, sweat glands, digestive tract, pancreas, hepatobiliary system, and reproductive system.  The CFTR protein alters the reabsorption of sodium, chloride, and potassium (McCance & Huether, 2019, pp 2871), which gives kids skin a salty taste when parents kiss them because of the excessive salt they waste through sweat glands.  It also interferes with the absorption of nutrients in those affected by the disease because it “leads to a dehydrated intestinal mucin layer and inspissated secretions” (Reed & Shores, 2020), which makes all the gut secretions thick and mucusy. This altered environment causes inflammation, pain, slow motility, and overgrowth of bacteria.  Also, sixty-seven percent of CF kids may suffer from reflux due to “delayed gastric emptying and impaired gut motility” (Reed & Shores, 2020), among other reasons. 
In terms of reproduction, if none of the parents have been diagnosed with CF and had children diagnosed with the disease, it means that both have to be carriers.  The risk of knowing if they are going to have more kids with CF depends entirely on knowing their carrier’s status (Horsley, Cunningham, & Innes, 2015, pp147).  In the case presented, to have a positive CF patient, both parents at least have to be carriers.  The probability with parents being both carriers is 1:4 of having CF kids (Horsley, Cunningham, & Innes, 2015, pp 2).  

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New York University

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