In this article, I'd like to talk about Wilson's disease but also about clinical symptoms of Wilson disease. Wilson's disease is a neuro-degenerative disorder of copper metabolism. In 1912, Wilson first described as a family disease which associates neurological symptoms and cirrhosis. Wilson's disease involves loss of liver ability to remove copper by bile and its incorporation into cerulo-plasmin liver-transporter protein. As a result, copper accumulates in liver, brain, kidneys and corneas.

The disease mostly affects young patients, aged between eight and 20 years. Any person with liver disease medically unexplained recurrent neurological symptoms require investigation for Wilson's disease. Liver damage may have four manifestations: acute hepatitis, chronic acute hepatitis, fulminated hepatitis and cirrhosis. Repeated episodes of hepatitis may occur along the several years before the onset of neurological signs.

In final stage, all patients will develop cirrhosis. Fulminated hepatic damage can lead to sudden release of copper in the blood by installing hemolytic anemia, a serious condition of life if it’s not corrected promptly. Neurological manifestations may occur without liver disease and is presented in a variety of signs and symptoms, including: tremor, spasticity, rigidity or core. Once diagnosed, a treatment should be initiated immediately, even if the patient is asymptomatic. Penicillamine is the drug of choice.

-Pathogenesis and causes of Wilson disease: Wilson's disease is caused by pathological accumulation of copper in the body. Copper in the diet normally is filtered by the liver and eliminated in bile and then eliminated through the digestive tract of organisms. Sick people can not remove copper due to inherited mutations of ATP7B gene. When the storage capacity of copper is exceeded in the liver and liver necrosis occurs copper is released into the bloodstream and reach other organs susceptible to capture him: brains, kidneys and corneas.



ATP7B gene encodes a protein synthesis with the same name which favors transport copper to the liver where it is incorporated into ceruloplasmin. 95% of copper bound to ceruloplasmin serum. Serum ceruloplasmin levels in Wilson's disease is low, not by affecting synthesis apoceruloplasmin by copper, but the life of apoceruloplasmin decrease from 4-5 days to 4-5 hours in the absence of copper.
Wilson's disease is an autonomic recessive disease transmitted from genitals.



-Signs and clinical symptoms of Wilson's disease:
Wilson's disease first attacks the liver and central nervous system. Copper accumulation in hepatocytes cause acute hepatitis, chronic acute hepatitis, cirrhosis or fulminated hepatitis.
Clinical manifestations of liver damage include:

• hepatomegaly, splenomegaly;

• jaundice, ascites, peripheral edema, fatigue;

• tendency to prolonged bleeding and bruising (bruises).
Neurological signs include:

• Parkinson symptoms, rigidity, and bradykinesia;

• dysarthria, tremor at rest or activity, facial dystonia;

• disdiadocokinezia, shaky writing, inordinate, abnormal eye movements;

• Respiratory dyskinesia unusual cough;

• polyneuropathy.

Psychiatric signs:

• hyperkinetic behavior, irritability or anger;

• emotional lability, psychosis, anger, difficulty concentrating;

• abnormal behavior, personality changes, depression, schizophrenia.