Wilson's+Disease+(Sick+Genes+Activity)

by Marilyn Braojos

=Wilson's Disease=

Wilson's disease is also referred to as hepatolenticular degeneration. It is a mutation of the protein gene located in chromosome ATP7B. Hepatolenticular degeneration is an autosomal recessive genetic disorder, in which copper gathers in tissues. It is generally found in Europeans, Sicilian, and Southern Italians.


 * Symptoms**

Wilson's disease is commonly associated with liver disease, and damage to the nervous system. Symptoms pertaining to liver disease include excessive exhaustion, increased bleeding and confusion, and portal hypertension. The neuropsychiatric symptoms are behavioral changes, clumsiness, mild cognitive deterioration, migraines, Parkinson related symptoms, and seizures.

Other than damages in the brain, liver, and the nervous system, Wilson's disease also affects other organ systems. The eyes, for instance, will develop the Kayser- Fleischer rings. The kidneys are affected with renal tubular acidosis. Although it is rare, the heart may develop cardiomyopathy. Hormones also become affected with hyperparathyroidism.
 * Causes**

Hepatolenticular degeneration is caused by a mutation in the protein gene. Unlike those affected, the carriers of the disease have one abnormal copy of the gene. Symptoms usually appear from the ages of 6- 40. One to four people out of 1000 are affected with Wilson's disease.


 * Diagnosis**

The initial step of the diagnosis is the assurance that the symptoms mentioned above are present in the individual. The next step in diagnosis is an "abnormal liver function test." Elevated aspartate transaminase, alanine transaminase, bilirubin levels,and decreased levels of albumin are all indicators of the disease. Low ceruloplasmin and serum copper also indicate the presence of Wilson's disease. The presence of Wilson's disease can also be determined by the raised level of copper in urine. For children, the penicillamine test has proved to be reliable, unlike in adults. In liver biopsy results, an organism affected with the disease will have 250 μg of copper/g in dried liver tissue.

During its early stages, development of steatosis is noticeable. As well as, increased glycogen in the nucleus and necrosis.

The symptoms in its advanced stages aren't very different than those in autoimmune hepatitis. Cirrhosis is another very common finding. Other indications include acute liver failure, and disintegration of liver tissue structure.


 * Prognosis**

Generally, Wilson's disease can only be treated, not cured. The treatment usually lasts a lifetime depending on how much the individual is affected. If treatment is begun before severe damage has occurred, the individual may be able to live longer than 30 years.


 * Treatment**

A variety of choices are available as for treatment for Wilson's disease.

A diet with low consumption of aliments containing copper is highly recommended. These foods include chocolate, dried fruit, mushrooms, nuts, and shellfish.

Another alternative would be using copper- absorbing medication. The initial attempt would be penicillamine, which aid in the excretion of copper in urine. If penicillamine fails to work, the trientine hydrochloride, or tetrathiomolybdate may be used. In the case that none of the medications work, then dimercaprol may be injected intramuscularly for a few weeks. If the individual decides to cease the usage of medication, death will occur 1 to 3 years after.

Physiotherapy is another part of the treatment. When the patient is affected with the neurologic form of Wilson's disease the physical therapy will greatly benefit.

The last alternative for the treatment of hepatolenticular degeneration would be a liver transplant. Although, it is very beneficial and effective, liver transplant is only performed in specific cases that fail to improve through the use of medication.

__**Fun Facts**__

1. The name of Wilson's Disease was derived for Samuel Kinnier Wilson. He was a British neurologist who was the first to recognize the condition.

2. One in 100 people are carriers of Wilson's disease.

//**References:**//

1. http://www.wilsonsdisease.org/

2. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001789/

3. http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/

4. http://www.medindia.net/patients/patientinfo/wilsons-disease-prognosis.htm

5. http://www.rightdiagnosis.com/w/wilsons_disease/prognosis.htm