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异基因造血干细胞移植治疗儿童尼曼匹克病1例报告 被引量：11

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摘要 尼曼匹克病（Niemann-Pick disease）是一种罕见的常染色体隐性遗传的脂质沉着病,致肝、脾、肺、脑、骨髓及中枢神经鞘磷脂和胆固醇的大量细胞内沉积,典型临床表现为肝脾巨大、身体发育障碍、肌张力减退、进行性神经退行性变、皮肤干燥呈蜡黄色以及半数眼底樱桃红斑。迄今为止,国内外尚无特效疗法。本文报道1例尼曼匹克病患儿经异基因造血干细胞移植治疗,取得了较好的短期效果。
作者 潘静 耿哲 江华 陈静
机构地区 湖北省妇幼保健院儿内血液科 上海交通大学医学院附属上海儿童医学中心血液肿瘤科
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2013年第9期782-784,共3页 Chinese Journal of Contemporary Pediatrics
关键词 异基因造血干细胞 尼曼匹克病 移植治疗 常染色体隐性遗传 儿童 身体发育障碍 神经退行性变 神经鞘磷脂
分类号 R725.5 [医药卫生—儿科]
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参考文献10

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二级参考文献37

  • 1欧瑞明,王玲,郑丽玲,姚孟冬,蒋卫桃,周长华.异基因造血干细胞移植治疗粘多糖病I型1例报告[J].中国当代儿科杂志,2006,8(3):181-183. 被引量：6
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共引文献65

同被引文献82

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引证文献11

二级引证文献26

中国当代儿科杂志
2013年 第9期

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