Wilson's disease is an inherited disorder that causes excessive copper accumulation in the body. It is also known as hepatolenticulary degeneration. Copper plays an important role in the harmonious development of nerves, bones, collagen and melanin. Normally, copper is absorbed from food, and excess is excreted through bile - substance produced in the liver and stored in the gallbladder.

When gall bladder evacuates its contents into the duodenum (first portion of small intestine), copper content in the ball crosses the gut with food digestion. In healthy people, copper is then discharged from the body through the stool.  In Wilson disease, copper does not pass the ball, but accumulate in the liver. As the level of copper in the liver increases, affected organ begins to allow its passage into the bloodstream. Copper is then stored in the body, especially the kidneys, brain and nervous system and eyes.  Wilson's disease affects about 1 in 30,000 to 100,000 people. Around one in 90 people is a carrier of Wilson's disease gene.  Clinical symptoms of Wilson's disease are fatal if not diagnosed and treated in time.



-Causes:  When you eat foods rich in copper (e.g.: liver, shellfish, peanuts, avocado, mushrooms), it is absorbed in the small intestine, reach the circulation where it binds to proteins and transported to the liver. The amount of copper used by the body is eliminated through the bile, a substance produced by the liver that helps digest fats.
In Wilson disease, a genetic mutation of chromosome 13 affects ATP7B gene, which interferes with transport of copper into bile. Gene is also involved in incorporating copper into ceruloplasmin, the protein that carries mineral by the bloodstream.

ATP7B gene lead to impaired improper disposal of copper, which accumulates in the liver, which can cause serious and sometimes irreversible damage. With excess copper during the "flows”, it begins to accumulate in other organs, especially in brain, eyes, kidneys and joints.  Although some ATP7B gene mutations occur spontaneously, most are transmitted from one generation to another. Wilson's disease is inherited as an autonomic recessive character, which means to develop the disease; the child must inherit two copies of the gene affectionate, one of the parent cation. If you receive only one copy of the abnormal gene you will not develop the disease but can transmit the gene becomes a carrier and its children.



-Risk factors for clinical symptoms of Wilson's disease:
If both parents are carriers of a defective gene copies, it shows a 25% chance of having a child with two normal genes, 50% have a child carrier of the gene (A single copy of the defective gene and one normal copy), and a 25% chance of having a child with two faulty genes will develop the disease. These opportunities remain unchanged for each task.  For this reason experts recommend that all children and all relatives of people with Wilson's disease to be tested to determine the disease.