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  • Essay / Wilson's Disease - 1741

    A patient presented with symptoms suggesting that she might be schizophrenic. Faced with numerous conditions mimicking schizophrenia, the doctor reviewed the family's notes and noticed that the patient had missed an appointment with the ophthalmologist. The doctor, well aware that an examination could confirm or refute a diagnosis, requested that an eye examination be carried out. Kayser-Fleischer rings were present in the cornea of ​​his eyes. These rings are deposits of copper and sulfur granules and are greenish gold in color. They are not always present; however, when they are, they are a classic identifier of Wilson's disease. (Holtz, 2006, pp.108-109) Therefore, the eye examination confirmed a diagnosis of Wilson's disease in this patient. While working in England in the early 1900s, Alexander Kinnear Wilson, an American neurologist, described the disease. (Schilsky & Brewer, 2009) As with many things, because he originally described it, it was named after him. Wilson's disease is also called hepatolenticular degeneration. (Mayo Clinic, 2009). It is a chronic genetic disease that stores excess copper in the liver. The accumulation of excess copper begins at birth. (Pittsburgh Children's Hospital, 2010) Copper is an essential trace metal, vital to human health, requiring low, regular intake to maintain homeostasis. According to Copperinfo (2011), “At least 20 enzymes contain copper and at least 10 of them require copper to function. » The brain, skin, heart and immune system all need copper. Ingested copper is absorbed in the stomach and small intestine. From there it enters the bloodstream and travels to the liver. (Copperinfo, 2011)A healthy liver serves as a filter. Part of its functionality is to metabolize carbohydrates... middle of paper ......cinnati Children's Hospital, 2009). A normal liver adequately filters and removes toxins from the body through urine or bile. A lack of copper homeostasis in a diseased and damaged liver hinders this process. This excessive accumulation of copper in the liver is Wilson's disease. Inherited mutated genes, one from each parent, cause the disease. If only one mutated gene is passed on, then the individual is just a carrier and will never be diagnosed with Wilson's disease. It is widespread throughout the world, including several different ethnic groups. It most often affects children and adolescents aged 10 to 20 years old. There are sometimes exceptions and we see diagnoses of Wilson's disease in children as young as three years old and in adults over 50 years old. There is treatment that, if continued throughout life, will maintain copper homeostasis and the patient will live a good life..