Wilsons Disease :: essays research papers

Wilsons DiseaseWilsons Disease, scientifically cognize as Hepatolendicular Degeneration, isan inherited dissorder in wich excessive amounts of copper accumalate in the body.Although Wilsons Disease begins at birth, symtoms ussually pass by between theages of 6 and 40. Symptoms place be serious such as liver disorder, or minor such asdrooling and trembling. This paper willing explain the following about WilsonsDisease the symptoms and consequences, treatment and diagnosis, and how it isinheritted. As mentioned before the symptoms can be very serious or minor. liverdisease, the most dangerous symptom occurs in about 40% of patients. succession 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 anchor ring in the margin of the cornea.Wilsons disease is easily diagnosed, but must(prenominal) be done very early. Both urinean d blood tests atomic number 18 taken from the possible patient, along with liver biospies, toexamine the possibly contaminate organ. sermon involves removing the excesscopper found in the body, and preventing reaccumalation of copper. Lifelongtherapy is required to keep copper out of the body. Zinc acetate is the newest drug authorize by the FDA for the treatment of Wilsons Disease. Other drugs used fortreatment and legal profession 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 non sexlinked, occuring equally in both males and females. In order for the disease to occur,both parents must carry and affected gene, which past passes on to the affectedchild. In the end, the child must have both affected genes. If the child only carriesone affe cted gene, heshe is known as a carrier (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. xxx different mutations were so far found among tested patients. Thedisease is known to be passed on from generation to generation in several cases, only