Wilson's disease

a rare hereditary disease in which copper accumulates in the brain and liver, gradually leading to tremors, muscular rigidity, kidney malfunction, and cognitive disturbances: marked by Kayser-Fleischer rings.
[named after Samuel Alexander Kinnier Wilson (1878-1936), British neurologist, who described it in 1912]

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also called  Hepatolenticular Degeneration,  
      a hereditary defect associated with the metabolism of copper and characterized by the progressive degeneration of the basal ganglia of the brain (large group of nuclei involved in the control of movement), the development of a brownish ring at the margin of the cornea, and the gradual replacement of liver cells with fibrous tissue. The disorder, which usually first appears in the second or third decade of life, is caused by a deficiency in the circulation of the copper-binding protein, ceruloplasmin, resulting in an excess of free copper in the body. The copper is deposited in the affected structures, giving rise to the characteristic symptoms, which include tremor, incoordination, and personality changes. In treatment a high-protein, low-copper diet is usually combined with administration of a chelating substance such as penicillamine, which removes the copper from the tissues for excretion in the urine. Early diagnosis and treatment can potentially reverse the effects of the disorder and prevent permanent brain and liver damage.

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Universalium. 2010.

Look at other dictionaries:

  • Wilson's disease — Classification and external resources A Kayser Fleischer ring (the brown ring on the edge of the iris) is common in Wilson s disease, especially when neurological symptoms are present ICD …   Wikipedia

  • Wilson's disease — n. [after S. Wilson (1874 1937), Eng neurologist, born in U.S.] a disease characterized by abnormal accumulation of copper in the brain, liver, etc …   English World dictionary

  • Wilson's disease — noun a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain • Syn: ↑hepatolenticular degeneration • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic… …   Useful english dictionary

  • Wilson's disease — Wil·son s disease wil sənz n a hereditary disease that is characterized by the accumulation of copper in the body (as in the liver, brain, or cornea) due to abnormal copper metabolism associated with ceruloplasmin deficiency, that is determined… …   Medical dictionary

  • Wilson's disease — noun Etymology: Samuel A. K. Wilson died 1937 English neurologist Date: circa 1915 a hereditary disease that is characterized by excessive accumulation of copper in the body (as in the liver or brain) due to abnormal copper metabolism, is… …   New Collegiate Dictionary

  • Wilson's disease — Wil′son s disease n. pat a rare hereditary disease marked by copper accumulation in the brain and liver, leading to neurological damage and kidney malfunction • Etymology: after Samuel Alexander Kinnier Wilson (1878–1936), British neurologist,… …   From formal English to slang

  • Wilson's disease — noun An autosomal recessive genetic disorder in which copper accumulates in tissues, resulting in neurological or psychiatric symptoms and liver disease …   Wiktionary

  • Wilson's disease — an inborn defect of copper metabolism in which there is a deficiency of caeruloplasmin (which normally forms a nontoxic complex with copper). The free copper may be deposited in the liver, causing jaundice and cirrhosis, or in the brain, causing… …   The new mediacal dictionary

  • Болезнь Вильсона, Болезнь Вильсона-Коновалова (Wilson'S Disease) — врожденное нарушение метаболизма меди, характеризующееся недостаточным содержанием в организме церулоплазмина (в норме образующего нетоксичное соединение с медью). Свободная медь может оседать в клетках печени, вызывая развитие желтухи и цирроза… …   Медицинские термины

  • Wilson disease protein — (also called ATP7B) is an ATPase that transports copper. PBB Summary section title = summary text = This gene is a member of the P type cation transport ATPase family and encodes a protein with several membrane spanning domains, an ATPase… …   Wikipedia

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