Wilson's disease - hepatolenticular degeneration

Wilson's disease - hepatolenticular degeneration

    * Introduction
    * Signs and symptoms
    * Diagnosis
    * Treatment
Wilson disease is a neurodegenerative disorder of copper metabolism. In 1912 Wilson descriso for the first time that a familial disease and neurological symptoms associated liver cirrhosis. Wilson's disease involves loss of ability to remove copper from the liver through the bile and its incorporation in hepatic ceruloplasmin-binding proteins. As a result copper accumulates in liver, brain, kidneys and corneas.
The disease affects mainly young patients with age between 8 and 20 years. A ny person with liver disease and recurrent unexplained neurological symptoms requires medical investigation to Wilson disease. Liver damage may have four manifestations: acute hepatitis, chronic acute hepatitis, fulminant hepatitis and cirrhosis. Repeated episodes of hepatitis may occur along several years before the onset of neurological signs.
In all patients will develop end-stage liver cirrhosis. Fulminant liver damage can lead to sudden release of copper in the blood with the installation of hemolytic anemia, a condition amentatoare life if not corrected promptly. Neurological manifestations may occur without liver disease and is presented in a variety of signs and symptoms, including: tremor, spasticity, stiffness, or chorea.
Once the diagnosis has been established treatment should be initiated immediately, even if the patient is asymptomatic. Penicillamine is the drug of choice.
Pathogenesis and causes
Wilson disease is caused by pathological accumulation of copper in the body. The copper in the diet is normally filtered by the liver and excreted in bile and thus outside the body through the digestive tract. People can not excrete copper boolnave due to inherited mutations of the ATP7B gene. When storage capacity is exceeded copper in the liver and hepatic necrosis occurs copper is released into the bloodstream and reach other organs receptive to capture: the brain, 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 serum copper is bound to ceruloplasmin. The level of serum ceruloplasmin in Wilson disease is low, not by affecting the synthesis apocaruloplasminei by copper, but for life apoceruloplasminei decreases from 4-5 days to 4-5 hours in the absence of copper. Wilson disease is an autosomal recessive disease transmitted from genitals