Wilson disease

An inherited disorder in which too much copper accumulates in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. A diagnostic feature of Wilson disease is what is called a Kayser-Fleischer ring, a deep copper-colored ring around the edge of the cornea. It represents copper deposits in the eye. The main clinical consequence for about 40 percent of patients with Wilson disease is liver disease. In other patients the first symptoms are neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and inexplicable deterioration of school work, neurosis or psychosis. Wilson disease is inherited as an autosomal recessive trait. The gene is on an autosome, a nonsex chromosome, namely, chromosome 13 (in region 13q14.3-q21.1). A person with Wilson disease has two copies of this gene. Their parents each have one copy of the gene and their siblings run a 25 percent chance of also receiving both of the parental Wilson genes and having Wilson disease. (The gene abbreviated ATP7B is now known to produce the "ATPase, Cu++ transporting, beta polypeptide.") Most cases of Wilson disease are treated with the drug penicillamine (brand names: Cuprimine, Depen). For the small number of patients who are intolerant of penicillamine, the drug trientine (Syprine) may be used. In patients for whom symptoms worsen, treatment with the drug BAL, or British Anti Lewisite, may result in significant improvement. In rare cases in which there is sudden, severe hepatitis and hemolytic anemia (anemia due to excessive breakdown of red blood cells), only liver transplantation can prevent certain death. Without proper treatment, Wilson disease is always fatal, usually by the age of 30. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected. However, if treatment is begun too late, recovery will be only partial and the disease will be fatal. The disease is named for an English neurologist named Samuel. A. Kinnier Wilson (1878-1937) who in 1912 first described what he termed "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver." The fact that penicillamine was useful for treating Wilson disease was reported in 1956. Almost overnight, Wilson disease became one of the few inherited metabolic disorders for which there was effective therapy.

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a rare, progressive, autosomal recessive disease due to a defect in metabolism of copper. Accumulation of copper in the liver, brain, kidney, cornea, and other tissues results in copper poisoning, with cirrhosis in the liver and degenerative changes in the brain, particularly the basal ganglia. Liver disease is the usual presenting symptom in children, and neurologic disease is most common in young adults. Another characteristic feature is the Kayser-Fleischer ring, a pigmented ring at the outer margin of the cornea. Called also hepatolenticular d. or degeneration and Westphal-StrÑŒmpell d.