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Fabry病1例并文献复习 被引量：3

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摘要 目的了解遗传性疾病Fabry病的临床和病理特点。方法总结分析1例具有肾损害Fabry病患者的临床表现,并对其肾活检组织进行光镜、免疫荧光及超微结构观察,结合文献对Fabry病的临床病理、治疗和预后进行探讨。结果患者有皮疹、神经痛、听力下降、不完全性右束支传导阻滞等Fabry病肾外临床表现,同时有蛋白尿、镜下血尿及肾小球滤过率下降等肾脏受累表现。肾活检光镜下肾小球足细胞明显肿胀,空泡变性呈泡沫状,肾小管上皮细胞颗粒变性,小灶状萎缩。免疫荧光阴性。电镜下内皮细胞、足细胞、小管上皮细胞空泡变性,部分泡沫样改变。足突弥漫融合。泡沫状细胞胞浆内次级溶酶体增多,可见大量呈分层的环状的髓鞘样小体和斑马小体。结论 Fabry肾病患者可出现蛋白尿、血尿和肾功能损害,嗜锇性髓鞘样包涵小体是其特征性结构,早期α-Gal A酶替代治疗有望改善Fabry病患者的预后。
作者 陈洪滔 许慧丽 宋海英 何永成
机构地区 广东省深圳市第二人民医院肾内科
出处 《中华全科医学》 2013年第1期163-164,F0003,共3页 Chinese Journal of General Practice
关键词 FABRY病 Α-半乳糖苷酶A 蛋白尿 肾活检
分类号 R692 [医药卫生—泌尿科学]
  • 相关文献

参考文献10

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二级参考文献22

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共引文献4

同被引文献22

  • 1李文歌,谌贻璞.α-GaIA酶替代疗法治疗Fabry病的临床应用与进展[J].世界临床药物,2005,26(2):75-78. 被引量：4
  • 2刘和俊,曹克将,李诚让,戴健,马继政,雍永宏,孙伟.肥厚型心肌病样临床表现的FABRY病家系研究[J].中华心血管病杂志,2006,34(2):143-147. 被引量：6
  • 3李文歌.Fabry病的肾脏病变及诊治进展[J].中国医师进修杂志（内科版）,2006,29(6):8-10. 被引量：4
  • 4赖雅敏,李玲,张抒扬,朱文玲,郭丽琳.Fabry病累及心脏一例[J].中华内科杂志,2006,45(6):510-510. 被引量：2
  • 5Desnick R J, Brady R, Barrangcr J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy[J]. Ann Intern Med. 2003.138(4);338- 346.
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引证文献3

二级引证文献3

中华全科医学
2013年 第1期

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