Copper imaging of Wilson disease by synchrotron radiation X-ray

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Wilson disease is an inherited disorder of copper overload that results in severe liver failure and neurological defects if untreated. Although effective treatments are available to prevent or reverse many manifestations, the diagnosis is often overlooked because of diverse symptoms and inevitable difficulties in laboratory tests; the failure of detecting disease-causing mutations in ATP7B genotyping and the failure or questionable biochemical tissue copper content using small needle biopsied specimens. To improve the diagnostic ability, we established a new element mapping technique by introducing a synchrotron-generated X-ray fluorescence into the pathological examination. The copper was readily detected in the tissue sections of WD livers which were negative for copper stainings. The sensitive and high-resolution copper visualization technique would provide a new tool for confirmative diagnosis and an insight into pathogenesis of tissue injury by copper.