| 激素耐药型肾病综合征与MYO1 E基因突变 |
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| 引用本文： | 赵锋,余自华. 激素耐药型肾病综合征与MYO1 E基因突变[J]. 国际儿科学杂志, 2014, 0(4): 389-393 |
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| 作者姓名： | 赵锋 余自华 |
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| 作者单位： | 赵锋(综述) (350025,南京军区福州总医院儿科)； 余自华(审校) (350025,南京军区福州总医院儿科)； |
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| 基金项目： | 国家自然科学基金(项目编号：81270766),福建省自然科学基金(项目编号：2012J01405)福建省社会发展重点项目(项目编号：2013Y0072) |
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| 摘 要： | MYO1E基因位于染色体15q21-22,编码非肌源性肌球蛋白I,即myosin 1e。 myosin 1e与基于肌动蛋白纤维的细胞骨架关系密切,对于维持肾小球足细胞的形态和运动功能以及肾小球滤过屏障的完整性具有重要作用。 MYO1E基因突变所致激素耐药型肾病综合征呈常染色体隐性遗传,儿童期发病,对激素耐药。但是,部分携带MYO1E基因突变的SRNS患儿对环孢霉素A有部分效应。 MYO1E基因突变分析有助于指导SRNS的治疗和判断预后。
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| 关 键 词： | 激素耐药型肾病综合征 MYO1E基因 突变 |
Steroid-resistant nephrotic syndrome and MYO1E mutation |
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| Zhao Feng,Yu Zihua. Steroid-resistant nephrotic syndrome and MYO1E mutation[J]. International Journal of Pediatrics, 2014, 0(4): 389-393 |
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| Authors: | Zhao Feng Yu Zihua |
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| Affiliation: | (Department of Pediatrics, Fuzhou General Hospital, Nanjing Command, Fuzhou 350025, China) |
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| Abstract: | MYO1E gene is located on chromosome 15 and encodes myosin 1e,which acts as an actin-based molecular motor of cytoskeleton. Myosin 1e is critical to maintain the podocyte function and the consequent integrity of the glomerular filtration barrier. Mutations in MYO1E gene has been indentified to be the cause of childhood-onset,familial steroid-resistant focal segmental glomerulosclerosis. Surprisingly,three patients with MYO1E mutations had partial remission by cyclosporine therapy. Detection of the MYO1E gene in the patients suffering from steroid-resistant nephrotic syndrome will be beneficial to make therapeutic decisions and predict prognoses. |
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| Keywords: | Steroid-resistant nephrotic syndrome MYO1E gene Mutation |
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