切换至 "中华医学电子期刊资源库"

中华肾病研究电子杂志 ›› 2018, Vol. 07 ›› Issue (01) : 47 -48. doi: 10.3877/cma.j.issn.2095-3216.2018.01.011

所属专题: 经典病例 经典病例 文献

病例报告

以肾脏病为主要症状的Fabry病一例
涂晓文1,(), 王欢1   
  1. 1. 100088 北京,解放军火箭军总医院肾脏内科
  • 收稿日期:2018-01-02 出版日期:2018-02-28
  • 通信作者: 涂晓文

A case report of Fabry disease with kidney disease as the main symptom

Xiaowen Tu1(), Huan Wang1   

  • Received:2018-01-02 Published:2018-02-28
  • Corresponding author: Xiaowen Tu
引用本文:

涂晓文, 王欢. 以肾脏病为主要症状的Fabry病一例[J]. 中华肾病研究电子杂志, 2018, 07(01): 47-48.

Xiaowen Tu, Huan Wang. A case report of Fabry disease with kidney disease as the main symptom[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2018, 07(01): 47-48.

图1 以肾脏病为主要症状的Fabry病患者电镜图片(×5000)
[1]
Germain DP.Fabry disease [J]. Orphanet J Rare Dis,2010,5:1-30.
[2]
Koulousios K, Stylianou K, Pateinakis P, et al. Fabry disease due to D313Y and novel GLA mutations[J]. BMJ Open, 2017,7(10):e017098.
[3]
陈佳韵,王朝晖,潘晓霞,等. Fabry病家系的α-半乳糖苷酶A基因突变研究[J].中华肾脏病杂志,2005,21(11):654-658.
[4]
才智勇,王素霞,章友康,等. 14例Fabry病肾损害的临床、病理及基因突变特点的分析[J].中华肾脏病杂志,2012,28(12):909-915.
[5]
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry [J]. J Inherit Metab Dis, 2007, 30(2): 184-192.
[6]
中国法布里病专家协作组. 中国法布里病(Fabry病)诊治专家共识[J].中华医学杂志,2013,93(4):243-247. Natl Med J China,2013,93(4):243-247.
No related articles found!
阅读次数
全文


摘要