Copper imaging of Wilson disease by synchrotron radiation X-ray

同步辐射 X 射线铜成像威尔逊病

• 批准号: 24659503
• 负责人: MATSUURA Akihiro
• 金额: $ 2.41万
• 依托单位: Fujita Health University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2012
• 资助国家: 日本
• 起止时间: 2012-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-24659503/
• 关键词: 放射光; 銅; 組織; 病理診断; 発症機序; 遺伝子診断; 蛍光Ｘ線; 微量元素

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.

威尔逊病是一种铜超载的遗传性疾病，如果不治疗，会导致严重的肝功能衰竭和神经系统缺陷。虽然有有效的治疗方法可以预防或逆转许多症状，但由于症状多样和实验室检查中不可避免的困难，诊断往往被忽视；检测ATP7B基因分型中致病突变的失败，以及使用小针活检标本的生化组织铜含量的失败或可疑。为了提高诊断能力，我们建立了一种新的元素定位技术，将同步辐射产生的x射线荧光引入病理检查。在铜染色阴性的WD肝组织切片中，很容易检测到铜。高灵敏度、高分辨率的铜可视化技术将为铜致组织损伤的确诊诊断和病理机制研究提供新的工具。

项目成果

臨床研究と倫理委員会-リハビリテーション医学領域研究の倫理的留意点

临床研究和伦理委员会 - 康复医学研究的伦理考虑

• 期刊: リハビリテーション医学
• 作者: Matsuura A;Kinebuchi M;松浦晃洋;松浦晃洋
• 通讯作者: 松浦晃洋

病理診断Wilson病診療ガイドライン2014

病理诊断 威尔逊病治疗指南2014年

• 作者: 松浦晃洋;杵渕幸
• 通讯作者: 杵渕幸

Copper imaging by microbeam X-ray fluorescence analysis for diagnosis of presymptomatic Wilson disease

微束 X 射线荧光分析铜成像用于诊断症状前威尔逊病

• 发表时间: 2015
• 期刊: SP-8 Result Report
• 作者: Matsuura A;Kinebuchi M;Terada Y
• 通讯作者: Terada Y

Refinement of synchrotron X-ray fluorescence procedure for measurement of trace element in the liver

用于测量肝脏中微量元素的同步加速器 X 射线荧光程序的改进

• 发表时间: 2014
• 期刊: PF Research Activity Report
• 作者: Matsuura A;Kinebuchi M
• 通讯作者: Kinebuchi M

Early diagnosis of pediatric patients with Wilson disease by synchrotron copper imaging

同步加速器铜成像对儿科威尔逊病的早期诊断

• 发表时间: 2012
• 作者: Matsuura A;Kinebuchi M.
• 通讯作者: Kinebuchi M.