Wilson Disease

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Wilson Disease, sometimes known as Hepatolenticular Degeneration Syndrome or Copper Storage Disease

[edit] Definition

Wilson Disease is a rare inherited condition where the liver does not process copper in the body, and rather than releasing copper into bile, it is released into the body where it may build up in the kidneys, brain, and eyes, causing damage and death. The disorder is treatable if diagnosed early.

[edit] Description, Signs and Symptoms

Wilson Disease causes copper to build up in the body, which can hurt the functionality of the kidneys, brain, and eyes, resulting in permanent damage and death if not treated. Many of the symptoms of Wilson Disease can only be noticed by a physical exam by a doctor, such as swelling of the spleen and liver, anemia, low platelet and white blood cell count, and high levels of amino acids, protein, uric acid, and carbohydrates in the urine. Other symptoms are more obvious such as jaundice, vomiting blood, tremors in the hands and arms, and muscle rigidity. An eye exam would also notice the Kayser-Fleischer ring, a brownish ring in the cornea which could be detected during an eye exam. A family history of Wilson Disease will help get an early diagnosis.

[edit] Inheritance

Wilson Disease is inherited in an autosomal recessive pattern and is affected by mutations in the ATP7B gene and in the PRNP gene. Mutations in the ATPB7 gene causes Wilson disease by manufacturing faulty proteins. The PRNP gene affects the age of onset and the type of symptoms that develop.

[edit] Demographics

People with Wilson Disease are approximately 1 in 35,000-100,000 live births, with a gene frequency of 0.56%. Research indicates that gene frequencies may be higher in Sardinia.

[edit] Diagnosis

After observation of some of the symptoms, a doctor may recommend tests to check the amount of copper in the urine, liver, and blood. High levels would be diagnostic of Wilson Disease. Also diagnostic would be the Kayser-Fleischer ring in the cornea.

[edit] Treatment and Management

Treatment of Wilson Disease requires a lifelong regimen of medication and the exclusion of some types of food from the diet to avoid copper buildup. The disease is treated with D-penicillamine or trientine hydrochloride, which help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. Patients also follow a low-copper diet, which means avoiding such foods as mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. If these rules are followed, people with Wilson Disease can live completely normal lives.

[edit] Prognosis

If a patient follows a low-copper diet and takes medication to promote copper excretion and limit absorption, he or she can live a completely normal, long life. If the condition is not diagnosed, however, it will prove fatal in a short amount of time.

The earlier the disease is diagnosed, the better the prognosis.