Wilson Disease Essay example -- Health, Homeostatis

A patient presented with symptoms that suggested she might be schizophrenic. With many conditions mimicking schizophrenia, the doctor reviewed the notes from the family and noticed the patient had missed an eye doctor appointment. The physician, very aware an exam could confirm or refute a diagnosis, requested an eye examination be performed. Kayser-Fleischer rings were present in the cornea of her 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 disease. (Holtz, 2006, pp.108-109) Therefore, the eye exam confirmed a diagnosis of Wilson disease for this patient. While working in England during the early 1900’s, Alexander Kinnear Wilson, an American neurologist, described the disease. (Schilsky & Brewer, 2009) As with many things, because he was the one who originally described it, it is named after him. Wilson disease is also referred to as hepatolenticular degeneration. (Mayo Clinic, 2009). It is a genetic, chronic disease that stores up excess copper in the liver. Accumulation of excess copper begins at birth. (Children’s Hospital of Pittsburg, 2010) Copper is an essential trace metal vital to human health, requiring a small, regular intake to maintain homeostatis. According to Copperinfo (2011), â€Å"At least 20 enzymes contain copper and at least 10 of these require copper to function.† The brain, the skin, the heart and the immune system all need copper. Ingested copper is absorbed in the stomach and small intestine. From there, it enters the bloodstream, making its way to the liver. (Copperinfo, 2011) A healthy liver serves as a filter. Part of its functionality is metabolizing carbohydr... ...cinnati Children’s Hospital, 2009). A normal liver adequately filters and removes toxins from the body through the urine or bile. A lack of copper homeostatis in a diseased, damaged liver obstructs this process. This excess accumulation of copper in the liver is Wilson 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 disease. It is prevalent worldwide, including several different ethnic groups. It most often affects children and teens from ages 10 to 20 years old. Occasionally there are exceptions and we see diagnoses of Wilson’s in children as young as three and adults over the age of 50. Treatment is available that, if continued for a lifetime, will maintain copper homeostatis and the patient will live a good life.