The disorder I chose is Nephrolithiasis (kidney stones). “Kidney stones, or calculi, form in the kidneys as a result of precipitation of urinary constituents and may develop in one or both of the kidneys” (Cunningham, Noble, Al-Modhefer, & Walsh, 2016, p.1112). I personally know a good many people who have had kidney stones in the past or even suffer from chronic kidney stones. I know a patient who suffered with chronic kidney stones for several years in a row and it seemed like nothing fixed her problem. The doctors said she was keeping them due to her drinking sweet tea. She quit drinking tea and still had them. Here recently she has randomly quit getting them as much even though she has not changed her diet except still not drinking sweet tea. She has had lithotripsy 4 times in the years that she had chronic kidney stones. “The first line treatment choice for upper urinary tract calculi is currently shock wave lithotripsy (SWL)” (Yamashita et al., 2018, p.1). 

            Kidney stones cause extreme amounts of pain. The patient I know, when she gets kidney stones, also has nausea and vomiting due to the pain caused by kidney stones. Treatment of kidney stones include treating the pain, helping the stone to pass or removing them, and preventing new stones from forming. Symptoms of kidney stones include flank pain and blood in the urine. 

            “The prevalence of stones in the United States is approximately 7% in women and 10% in men” (Huether &McCance, 2017, p.748). Before doing my research on kidney stones, I thought they were more prevalent in women, but men have a 3% higher chance of getting them than women. “The risk of urinary calculi formation is influenced by a number of factors, including age, sex, race, geographic location, seasonal factors, fluid intake, diet, and occupation. Most persons develop their first stone before age 50 years” (Huether &McCance, 2017, p.748).

            There are many factors that influence the formations of kidney stones. People who are more active and drink plenty of water are at a decreased risk of forming kidney stones. There are also multiple types of kidney stones like calcium stones, struvite stones, and uric acid stones. Everything that happens in our bodies can be brought back to cellular function. 

Huether & McCanee, 2017, p.749, stated: 

Human urine contains many ions capable of precipitating from solution and forming a variety of salts. The salts from crystals that are retained grow into stones. Crystallization is the process by which crystals grow from a small nidus of nucleus to larger stones in the presence of supersaturated urine. 

If doctors can pinpoint what type of kidney stone a patient is forming, they can most likely fix the problem. 

References

Cunningham, P., Noble, H., Al-Modhefer, A.-K., & Walsh, I. (2016). Kidney stones: 

pathophysiology, diagnosis and management. British Journal of Nursing, 25(20), 1112–1116. https://doi-org.ezp.waldenulibrary.org/10.12968/bjon.2016.25.20.1112

Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, 

MO: Mosby.

Yamashita, S., Kohjimoto, Y., Iwahashi, Y., Iguchi, T., Nishizawa, S., Kikkawa, K., & Hara, I. 

(2018). Noncontrast Computed Tomography Parameters for Predicting Shock Wave Lithotripsy Outcome in Upper Urinary Tract Stone Cases. Biomed Research International, 2018, 9253952. https://doi-org.ezp.waldenulibrary.org/10.1155/2018/9253952

Colon cancer is something that two people in my life have had and have also died from. They were completely different in every way. One of the people was a 24-year-old female that worked as a firefighter for two years at the time of her diagnosis. She had no family history of colon cancer and did not drink alcohol or use tobacco products. Her only symptom was unexpected weight loss. The other was a 50-year-old male with no family history of the disease but drank alcohol and smoked cigarettes regularly. He was diagnosed shortly after having his first routine colonoscopy. He was asymptomatic. They both died within two years after their diagnosis. 

Genetics: Alterations and Symptoms

Genetics can play a role in having colon cancer because “hereditary nonpolyposis colorectal cancer is the methylation of a gene whose protein product repairs damaged DNA” (Huether & McCance, 2017, p. 52). The damaged DNA leads to the presence of tumors in the colon (Huether & McCance, 2017). Certain behaviors can alter a patient’s DNA over time like continuous predisposal to alcohol and tobacco products, along with many other risk factors (Huether & McCane, 2017). Someone that has ulcerative colitis is also more likely to acquire colon cancer (Huether & McCane, 2017).

Symptoms of colon cancer include weight loss, diarrhea, gastrointestinal bleeding, fever, abdominal pain, bowel obstructions, and/or bowel perforation (Hammer & McPhee, 2019). Patients can have all these symptoms or few (Hammer & McPhee, 2019).

Pathophysiology of the Disease and Cellular Function

When a patient acquires colon cancer many mutations in the DNA begin to accumulate, altering colon cells (Huether & McCane, 2017). The first mutation that begins to take place is when the Adenomatous polyposis coli (APC) gene is changed (Hammer & McPhee, 2019). This gene suppresses tumors and is present in the colon of those with mutation-free DNA (Huether & McCane, 2017). Protein glycosylation is altered when a tumor is formed (Zhang & Hagen, 2018). “O-linked glycosylation (GalNAc-T6) in the cellular transformations typically (is) seen in cancerous cells and tissues” (Zhang & Hagen, 2018, p. 1315). Zhang and Hagen performed a study where they discovered the O-linked protein was absent in cancer-free colons but was present in most colons infected with cancer (2018),

In a patient with colon cancer, somatic changes take place in the APC gene, and once polyps in the colon are formed, other pathways are alerted making the polyps begin to grow larger (Hammer & McPhee, 2019). The cell cycle allows cancer to progress because certain genes and apoptosis have been inactivated (Hammer & McPhee, 2019). In the normal cellular function of the colon, apoptosis kills off mutated DNA because it is not recognized, but with colon cancer, mutations multiply without any cell death (Hammer McPhee, 2019). Metastasis of colon cancer then takes place (Hammer & McPhee, 2019). 

References

Hammer, G. D., & McPhee, S. J. (2019). Pathophysiology of disease: An introduction to clinical medicine (8th ed.). New York, NY: McGraw-Hill Education.

Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.

Zhang, L., & Hagen, K. G. T. (2018). Pleiotropic effects of o-glycosylation in colon cancer. Journal of Biological Chemistry, 294(4), 1315–1316. https://doi-org.ezp.waldenulibrary.org/10.1074/jbc.H117.812826