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Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy
Zhang, Long2; Wang, Wen-hui1; Li, Lin-feng1; Dong, Guo-xiang2; Zhao, Jun2; Luan, Jing-yuan2; Sun, Ting-ting1
关键词Chemical Lumbar Sympathectomy Polymorphism Primary Erythermalgia Scn9a Gene
刊名EUROPEAN JOURNAL OF DERMATOLOGY
2010-11-01
DOI10.1684/ejd.2010.1125
20期:6页:763-767
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
资助者National Natural Science Foundation of China ; Key Scholars Foundation from Peking University Third Hospital ; National Natural Science Foundation of China ; Key Scholars Foundation from Peking University Third Hospital
研究领域[WOS]Dermatology
关键词[WOS]OF-FUNCTION MUTATION ; RESPONSIVE ERYTHROMELALGIA ; NA(V)1.7 CHANNEL ; EXCITABILITY ; EXCLUSION ; DISORDER ; NEURONS
英文摘要

Primary erythermalgia (PEM) is recalcitrant and long-term remission is difficult to achieve. Favorable results of treatment using carbamazepine or mexiletine have been identified in some PEM patients with SCN9A gene mutations. However, no therapeutic studies regarding patients without pathogenic SCN9A gene mutation have been reported. Here we present a PEM case with R1150W polymorphism in SCN9A and a five-year remission was achieved by chemical lumbar sympathectomy (CLS). A 15-year-old girl with severe PEM attacks in both feet and lower legs was treated with CLS and followed up for five years. The encoding exons and their flanking sequences in the SCN9A gene were amplified and sequenced. A 50% immediate pain reduction was achieved after CLS. Burning pain, erythema and swelling in the lower legs disappeared in four days, and all ulceration healed in a month. The patient resumed normal exercise five months after CLS. There were no relapses in the following five years. R1150W polymorphism in SCN9A was detected in the patient and her healthy father. Long-term remission was achieved after CLS in this PEM case with R1150W polymorphism in SCN9A. The effectiveness of CLS and phenotype/genotype of PEM should be further studied in larger samples.

语种英语
所属项目编号30700721 ; 80446-01
资助者National Natural Science Foundation of China ; Key Scholars Foundation from Peking University Third Hospital ; National Natural Science Foundation of China ; Key Scholars Foundation from Peking University Third Hospital
WOS记录号WOS:000284998000016
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56708
专题北京大学第三临床医学院_皮肤科
作者单位1.Peking Univ, Dept Dermatol, Hosp 3, Beijing 100191, Peoples R China
2.Peking Univ, Dept Intervent Radiol & Vasc Surg, Hosp 3, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Zhang, Long,Wang, Wen-hui,Li, Lin-feng,et al. Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy[J]. EUROPEAN JOURNAL OF DERMATOLOGY,2010,20(6):763-767.
APA Zhang, Long.,Wang, Wen-hui.,Li, Lin-feng.,Dong, Guo-xiang.,Zhao, Jun.,...&Sun, Ting-ting.(2010).Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy.EUROPEAN JOURNAL OF DERMATOLOGY,20(6),763-767.
MLA Zhang, Long,et al."Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy".EUROPEAN JOURNAL OF DERMATOLOGY 20.6(2010):763-767.
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