Disease, Wilson

Disease, Wilson
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.

Medical dictionary. 2011.

Игры ⚽ Поможем решить контрольную работу

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

  • disease — diseasedly, adv. diseasedness, n. /di zeez /, n., v., diseased, diseasing. n. 1. a disordered or incorrectly functioning organ, part, structure, or system of the body resulting from the effect of genetic or developmental errors, infection,… …   Universalium

  • Wilson — /wil seuhn/, n. 1. Sir Angus (Frank Johnstone) /jon steuhn, seuhn/, 1913 91, English writer. 2. August, born 1945, U.S. playwright. 3. Charles Thomson Rees /tom seuhn rees/, 1869 1959, Scottish physicist: Nobel prize 1927. 4. Edmund, 1895 1972, U …   Universalium

  • Disease management (health) — Disease management is defined as a system of coordinated health care interventions and communications for populations with conditions in which patient self care efforts are significant. [1][2][3] For people who can access health care… …   Wikipedia

  • 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

  • Wilson — may refer to:People* Wilson (surname)In geography*List of peaks named Mount WilsonAustralia*Wilson, Western AustraliaCanada*Wilson Avenue (Toronto), Ontario **Wilson (TTC) subway stationPoland* Wilson Square ( Plac Wilsona ) in WarsawUnited… …   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 disease — Wilson disease. См. гепато церебральная дистрофия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Wilson-Krankheit — Klassifikation nach ICD 10 E83.0 Morbus Wilson …   Deutsch Wikipedia

  • 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… …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”