Wilson Disease

Wilson Disease

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Wilson Disease.

Wilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system.

Wilson's disease is an autosomal recessive disease, for a person to acquire the disease need both parents are carriers of the mutated gene.

History

In 1912 Dr. Kinnear Wilson (neurologist) described a disorder characterized by progressive neurological disease accompanied by chronic liver disease. But, in 1948 It was established the role of copper

Incidence, frequency and epidemiology

The prevalence of the disease ranges from 1 / 30,000 to 1 / 100,000. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance to transmit the disease. It is most common in people of Eastern European countries, Sicily and southern Italy and often affects people under 40 years. Symptoms begin to appear around age 4.

Etiology, signs and symptoms

This disease is caused by mutations in the gene ATP7B hepatocyte. This gene encodes a protein necessary to remove copper, when the protein is damaged copper accumulates in the tissue.

(Mencionar los mas relevantes signos y sintomas)

* Abnormal posture of arms and legs

* Confusion or delirium

* Dementia

* Difficulty moving arms and legs, stiffness

* Difficulty walking (ataxia)

* Emotional or behavioral changes

* Enlargement of the abdomen (abdominal distention)

* Personality changes

* Phobias, distress (neuroses)

* Slow movements

* Slow or decreased movement and expressions of the face

* Speech impairment

* Tremors of the arms or hands

* Uncontrollable movement

* Unpredictable and jerky movement

* Vomiting blood

* Weakness

* Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

Exams, labs, test used to diagnose

For diagnostic you can examine coordination or search the presence of Kayser-Fleischer

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