Abstract
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions that mimic the WD’s phenotype (Wilson-like). Many patients are diagnosed using current available methods, but others remain in an uncertain area because of bordering ceruloplasmin levels, inconclusive genetic findings and unclear phenotypes. Currently, the available biomarkers for WD are ceruloplasmin and copper in the liver or in 24 h urine, but they are not solid enough. Therefore, the characterization of biomarkers that allow us to anticipate the evolution of the disease and the monitoring of new drugs is essential to improve its diagnosis and prognosis.
Highlights
Wilson’s disease (WD; MIM 277900) is an autosomal recessive disorder related to the metabolism of copper, a metal that accumulates in tissues, mainly in the liver and brain
WD is caused by mutations in the ATP7B gene, which encodes for a copper transporter that is responsible for biliary excretion of copper and its incorporation into ceruloplasmin
In a comparative study using an enzymatic test and an immunologic assay for Cp measurement, the enzymatic approach based on serum Cp oxidase activity resulted to obtain a better cut-off point for predicting WD [34]
Summary
Wilson’s disease (WD; MIM 277900) is an autosomal recessive disorder related to the metabolism of copper, a metal that accumulates in tissues, mainly in the liver and brain.WD is caused by mutations in the ATP7B gene, which encodes for a copper transporter that is responsible for biliary excretion of copper and its incorporation into ceruloplasmin. Rumpel reported excess copper in the liver of a patient with WD for the first time, and Cumings corroborated it and established that copper accumulation in the liver and in the basal ganglia were the etiological basis of the disease [2,3]. Less than 50 years after its discovery, WD became the first chronic hereditary liver disease that had a specific treatment, which made it possible to stop the devastating progression of the disease and prevent the eventual death. Despite these initial advances, its diagnosis remains a challenge and WD is currently an underdiagnosed disorder. Epidemiologic estimates have established notable differences between clinical and genetic prevalence, which
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