Wilsons Disease


Eyes | General Practice | Wilsons Disease (Disease)


Description

Wilson disease is an inherited disorder that causes excessive copper accumulation in the body. It is also known as hepatolenticular degeneration. Copper plays an important role in the harmonious development of nerves, bones, collagen and melanin. Normally, copper is absorbed from food, and the excess is excreted in the bile. When gallbladder dumps its contents into the duodenum, copper content in the ball crosses the intestine with the digested food. In healthy people, copper is then discharged from the body through the stool.

Causes and Risk factors

In Wilson disease, copper does not pass the ball, but accumulate in the liver. As the level of copper in the liver increases, organ begins to allow passage into the bloodstream. Copper is then stored in the body, especially the kidneys, brain and nervous system and eyes. Wilson disease is fatal if not discovered and treated in time. When eating foods rich in copper (eg liver, shellfish, peanuts, avogado, mushrooms), he is absorbed in the small intestine, reach the circulation where it binds to proteins and is transported to the liver. Unused amounts of copper are eliminated through the bile body, a substance produced by the liver that helps digest fats. Copper accumulated can affect many organs and tissues, but most often are damaged liver and central nervous system.

Diagnosis and Treatment

Tests for Wilsons disease may include: Blood tests (to monitor liver function and look for protein levels of serum ceruloplasmin and serum copper in the blood stream); urine test (to measure the amount of copper excreted in the urine); eye test (used on people with neurologic symptoms, the slit-lamp eye examination looks for rusty-brown colored rings in the cornea (Kayser-Fleisher rings); brain scan (CT or MRI to detect brain damage); liver biopsy (a thin needle is used to remove a small tissue sample from the liver and test for excess copper) genetic testing (DNA mutation analysis).

Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body. Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage. The drugs d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine) release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted in urine.

Zinc, administered as zinc salts such as zinc acetate (Galzin), blocks the digestive tract’s absorption of copper from food.

People with Wilson disease should reduce their dietary copper intake. ...