Wilsons Disease :: essays research papers

Wilsons DiseaseWilsons Disease, scientific eachy known as Hepatolendicular Degeneration, isan communicable diss cabaret in wich excessive amounts of copper accumalate in the body.Although Wilsons Disease begins at birth, symtoms ussually occur between theages of 6 and 40. Symptoms can be serious such as colored disease, or minor such asdrooling and trembling. This paper will explain the following about WilsonsDisease the symptoms and consequences, treatment and diagnosis, and how it isinheritted. As mentioned in the beginning the symptoms can be very serious or minor. Liverdisease, the most dangerous symptom occurs in about 40% of patients. While nearlyall 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.Wilsons disease is easily diagnosed, but must be done very early. Both urineand blood tests are tak en from the possible patient, along with liver biospies, toexamine the possibly contaminated organ. Treatment involves removing the excesscopper raise in the body, and preventing reaccumalation of copper. Lifelongtherapy is undeniable to keep copper out of the body. Zinc ethanoate is the newest drugapproved by the FDA for the treatment of Wilsons Disease. Other drugs used fortreatment and prevention are penacillamine and trietine. In severe cases livertransplants are needed for patients. Treatment is extremely important in WilsonsDisease. Stopping treatment can result in death of a patient in as little as threemonths.Wilsons disease is an inherited disease from both parents. It is not sexlinked, 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 pip-squeak. In the end, the child must have two affected genes. If the child only carriesone affected gene, heshe is known as a carr ier (they can pass on the disease), andwill not be ill. The disease affects chromosome 13 in humans, and is known asATP7B. Wilsons Disease genes are affected by spontaneous mutations done tothem. Thirty different mutations were so far found among tested patients. Thedisease is known to be passed on from generation to generation in several cases, yet