Wednesday, October 2, 2019
Wilsons Disease :: essays research papers
Wilson’s Disease           Wilson’s Disease, scientifically known as Hepatolendicular Degeneration, is an inherited dissorder in wich excessive amounts of copper accumalate in the body. Although Wilson’s Disease begins at birth, symtoms ussually occur between the ages of 6 and 40. Symptoms can be serious such as liver disease, or minor such as drooling and trembling. This paper will explain the following about Wilson’s Disease: the symptoms and consequences, treatment and diagnosis, and how it is inheritted.           As mentioned before the symptoms can be very serious or minor. Liver disease, the most dangerous symptom occurs in about 40% of patients. While nearly all patients show minor symptoms of nuerogical and psychiatric such as treemor, rigidity, drooling, speech slurs, personality changes, inappropriate behavior, detterioration of school work, and a brownish ring in the margin of the cornea.           Wilson’s disease is easily diagnosed, but must be done very early. Both urine and blood tests are taken from the possible patient, along with liver biospies, to examine the possibly contaminated organ. Treatment involves removing the excess copper found in the body, and preventing reaccumalation of copper. Lifelong therapy is needed to keep copper out of the body. Zinc acetate is the newest drug approved by the FDA for the treatment of Wilson’s Disease. Other drugs used for treatment and prevention are penacillamine and trietine. In severe cases liver transplants are needed for patients. Treatment is extremely important in Wilson’s Disease. Stopping treatment can result in death of a patient in as little as three months.           Wilson’s disease is an inherited disease from both parents. It is not sex linked, occuring equally in both males and females. In order for the disease to occur, both parents must carry and affected gene, which then passes on to the affected child. In the end, the child must have two affected genes. If the child only carries one affected gene, heshe is known as a carrier (they can pass on the disease), and will not be ill. The disease affects chromosome 13 in humans, and is known as ATP7B. Wilson’s Disease genes are affected by spontaneous mutations done to them. Thirty different mutations were so far found among tested patients. The disease is known to be passed on from generation to generation in several cases, yet
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