engleski

Wilson's disease

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism characterized by excessive accumulations of copper in the liver, central nervous system, kidneys, eyes and other organs. WD is characterized by reduced incorporation of copper into ceruloplasmin and a decreased biliary copper excretion. The disease is progressive and ultimately fatal if untreated. The worldwide prevalence of WD is estimated to be approximately one case per 30000, whereby at least a half of WD patients remain undiagnosed and die of untreated disease. The age at onset and clinical presentation greatly vary among WD patients. The disease most commonly occurs in people under 40 ; in children the onset of symptoms may occur around age 4 but however is most common during teenage years. Liver failure and damage to the central nervous system (CNS) are the predominant and most severe WD sequels. Approximately 40% of all patients are first seen because they experience symptoms of liver disease. Blood tests show an elevation in liver enzymes, and the symptoms of acute hepatitis, fulminant hepatitis, chronic hepatitis or cirrhosis, with all complications, may be present. If the liver injury is acute, copper may be released in the blood and cause hemolytic anemia. If the liver injury is chronic, copper may accumulate in the brain and cause neuropsychiatric symptoms...

Wilson's disease

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