WILSON DISEASE Meaning and
Definition
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Wilson disease is a rare autosomal recessive genetic disorder characterized by the accumulation of excess copper in the body, particularly in the liver and other organs such as the brain and eyes. It is caused by mutations in the ATP7B gene, which is responsible for the production of a protein that helps transport copper out of the liver. The malfunctioning protein leads to copper buildup and toxicity in various tissues.
Symptoms of Wilson disease can vary widely and may present in childhood, adolescence, or adulthood. These symptoms can range from liver-related conditions, such as hepatitis, jaundice, and cirrhosis, to neurological problems like tremors, muscle stiffness, and difficulty with speech and coordination. Copper buildup in the eyes may also cause Kayser-Fleischer rings, which are distinctive brownish-green rings around the cornea.
Wilson disease is typically diagnosed through a combination of clinical evaluation, blood tests measuring copper levels and liver function, and genetic testing to identify mutations in the ATP7B gene. Treatment often involves a lifelong regimen of medications, such as chelating agents or zinc, to help remove excess copper from the body and prevent further accumulation. In severe cases, liver transplantation may be required.
Early detection and treatment are crucial in managing Wilson disease and preventing irreversible damage to affected organs. With proper medical intervention, individuals with Wilson disease can lead relatively normal lives and effectively manage their symptoms.
Common Misspellings for WILSON DISEASE
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Etymology of WILSON DISEASE
The word "Wilson disease" is named after Samuel Alexander Kinnier Wilson, a British neurologist who first described the condition in 1912. Wilson disease is a rare genetic disorder that results in copper buildup in various organs, mainly the liver and brain. Dr. Wilson's research and clinical observations led to the identification and understanding of the disease, leading to it being named after him.
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