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Wilsonís Disease, scientifically known as Hepatolendicular Degeneration, is
an inherited dissorder in wich excessive amounts of copper accumalate in the body.
Although Wilsonís 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 Wilsonís
Disease: the symptoms and consequences, treatment and diagnosis, and how it is
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.
Wilsonís 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 Wilsonís 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 Wilsonís
Disease. Stopping treatment can result in death of a patient in as little as three
Wilsonís 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. Wilsonís 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
most patients do not show family history of the disease.
Wilsonís Disease is a serious and fatal, if not properly treated, disease.
Treatment can get rid of the disease but must be lifelong to prevent reaccumalation
of copper. The disease is not easily inheritted due to the fact that the child must
recieve an affected gene from each parent. Wilsonís disease is currently being
researched and new drugs are being made to prevent and treat affected patients.
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Rare diseases, Hepatology, Wilson disease protein, Wilsons disease, Liver disease, Genetic disorder, Copper in health, Gauchers disease
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