Wilsons Disease :: essays research papers

Wilsons DiseaseWilsons Disease, scientifically cognise as Hepatolendicular Degeneration, isan inherited dissorder 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 colorful unsoundness, or diminished such asdrooling and trembling. This paper will explain the following about WilsonsDisease the symptoms and consequences, treatment and diagnosis, and how it isinheritted. As menti championd before the symptoms can be real 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 take aim work, and a brownish ring in the margin of the cornea.Wilsons disease is easily diagnosed, but essential be done very early. both urineand blood tests are taken from the possible patient, along with coloured biospies, toexamine the possibly contaminated organ. Treatment involves removing the excesscopper bring in the body, and preventing reaccumalation of copper. Lifelongtherapy is needed to keep copper out of the body. surface acetate is the newest drugapproved by the FDA for the treatment of Wilsons Disease. former(a) 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 every bit in both males and females. In order for the disease to occur,both parents must carry and affected gene, which then feedes on to the affected kid. In the end, the child must have two affected genes. If the child only carriesone affected gene, heshe is k nown 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. Thirty different mutations were so far lay down among tested patients. Thedisease is known to be passed on from generation to generation in several cases, yet