Wilson's Disease: A Case Study

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A young couple walks into the prenatal ward of the hospital after their second miscarriage in two years [1]. The wife, Topaz, looks fatigued [2], and lacked enthusiasm and an appetite [2]. The husband became worried after Topaz became depressed [3] and appeared to look yellow [3] in complexion. Their doctor, Dr. Haus, called them in at this point and asked Topaz to step into the general examination room.
Dr. Haus began by asking Topaz for a urine sample and a blood test. As they went over the results, Dr. Haus said, “Topaz, your blood has a copper level of 260 μg/dL, which is extremely high. Most normal levels range from 70–155 μg/dL [1]. I believe that you may have Wilson’s disease, which is an inherited genetic disorder that affects your
…show more content…
This can affect areas in the brain responsible for sleep, making Topaz extremely fatigued [10]. Dr. Haus explains, “Topaz, your jaundice was caused by a build-up of bilirubin (an orange-yellow pigment formed in the liver by the breakdown of hemoglobin) in the bloodstream and body tissue, which often occurs following liver damage (Figure 5) [11].” Additionally, Dr. Haus added, “yellowing of the skin can cause similar symptoms to a common flu, including loss of appetite, which was the third symptom you were having.” …show more content…
M. Shlapatska, and S. P. Sidorenko. (13 Aug, 2012) Figure. Digital image. Experimental Oncology. Morion. Web. 16 Apr. 2105. Retrieved from: http://exp-oncology.com.ua/article/3373/the-multilevel-regulation-of-cd95-signaling-outcome
“Diagnosing Diabetes and Learning About Prediabetes.” American Diabetes Association. Diabetes Forecast, 22 Sept. 2014. Web. 16 Apr. 2015. Retrieved from: http.//www.diabetes.org/diabetes-basics/diagnosis/
Strand, Susane, and Walter J. Hofmann. “Hepatic Failus and Liver Cell Damage in Acut Silson’s Disease Involve CD95 (APO-1/Fas) Mediated Apoptosis.” Nature.com. Nature Publishing Group, 1998. Web. 16 Apr. 2015. Retrieved from: http://www.nature.com/nm/journal/v4/n5/abs/nm0598-588.html
Peter, M. E., and A. Haji. “The Role of CD95 and CD95 Ligand in Cancer.” Nature.com. Nature Publishing Group, 2015. Web. 16 Apr. 2015. Retrieved from: http://www.nature.com/cdd/journal/v22/n4/full/cdd20153a.html
Paulev, and Zubieta. (16 Apr. 2015) Highlights. New Human Physiology Ch 23. Paulev-Zubieta, Aug. 2004. Web. Retrieved from: http://www.zuniv.net/physiology/book/chapter23.html
Muller, P., P. Bie, and C. Wijmenga. Molecular Pathogenesis of Wilson and Menkes Disease: Correlation of Mutations with Molecular Defects and Disease

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