"Treatment and prognosis "
"It was initially described by Samuel Alexander Kinnier Wilson (1878-1937), an American-born British neurologist, in 1912 as "progressive lenticular degeneration". Wilson also coined the terms extrapyramidal system and syndrome 10,20. Interestingly, Kayser-Fleischer rings were initially described a decade earlier by German physicians Bernhard Kayser (1869-1954) and Bruno Fleischer (1848-1904) in 1902 and 1903 respectively 16,17,21."
"elevated bilirubin, AST and ALT"
"elevated bilirubin, AST and ALT"
"Kayser-Fleischer rings in Descemet membrane of the peripheral cornea 11, characteristic but not pathognomonic"
"Wilson disease is caused by one of many mutations of the ATP7B gene on the long arm of chromosome 13 which codes for the ATP7B enzyme that enables biliary excretion of excess copper, normally accounting for 95% of copper excretion. Copper first accumulates in the liver, generating free radicals and causing oxidative damage to proteins and lipids, with early damage to mitochondria, nuclei and peroxisomes."
Expected headings
"Treatment and prognosis "
"Wilson disease, also known as hepatolenticular degeneration, is a rare and potentially fatal autosomal recessive disorder caused by impairment of both biliary copper excretion and serum copper transport. Copper first accumulates in the liver causing slowly progressive disease and subsequently spills over into the bloodstream causing oxidative damage to the brain, kidneys and other organs. The range of manifestations and phenotypes adds to the diagnostic challenge."
"elevated bilirubin, AST and ALT"
"Wilson disease is caused by one of many mutations of the ATP7B gene on the long arm of chromosome 13 which codes for the ATP7B enzyme that enables biliary excretion of excess copper, normally accounting for 95% of copper excretion. Copper first accumulates in the liver, generating free radicals and causing oxidative damage to proteins and lipids, with early damage to mitochondria, nuclei and peroxisomes."