天津医药

天津医药 ›› 2019, Vol. 47 ›› Issue (5): 529-532.doi: 10.11958/20190183

• 临床研究 • 上一篇    下一篇

经基因分析确诊的儿童原发性红斑肢痛症一例报告

李妍涵 1，金颖 2，刘怡 2，康路路 2，宋金青 2，杨艳玲 2△   

  1. 基金项目：国家重点研发计划（十三五计划）（2017YFC1001700） 作者单位：1中国医学科学院血液病医院（血液学研究所）实验动物中心（邮编300020）；2北京大学第一医院儿科 作者简介：李妍涵（1961），女，副研究员，主要从事遗传学、分子生物学等方面研究 △通讯作者 E-mail：organic_acid@126.com
  • 收稿日期:2019-01-18 修回日期:2019-03-19 出版日期:2019-05-15 发布日期:2019-05-15
  • 通讯作者: 杨艳玲 E-mail:organic_acid@126.com
  • 基金资助:
    “十三五”国家科技支撑计划项目

A case report of primary erythermalgia in a child diagnosed by gene analysis

LI Yan-han1, JIN Ying2, LIU Yi 2, KANG Lu-lu2, SONG Jin-qing2, YANG Yan-ling2△   

  1. 1 Laboratory Animal Center, Institute of Hematology & Blood Diseases Hospital Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China; 2 Department of Pediatrics, Peking University First Hospital △Corresponding Author E-mail: organic_acid@126.com
  • Received:2019-01-18 Revised:2019-03-19 Published:2019-05-15 Online:2019-05-15

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摘要： 摘要：原发性红斑肢痛症是一种罕见的临床综合征，以双侧肢端皮肤间歇性皮温升高、发红、肿胀及烧灼样痛为 特点。对于原发性红斑肢痛症的临床与遗传学研究，国内仅有数例病例报道。本文回顾性分析1例经遗传学确诊的 原发性红斑肢痛症患儿的临床经过及基因突变特点。先证者为男性患儿，于8岁出现双下肢肢端疼痛，疼痛与温度 相关，患处皮肤红肿，皮温升高。于10岁疼痛加剧，症状同前，后于11岁因双下肢端疼痛3年，阵发性加剧1年就诊 于我院。SCN9A基因分析发现c.2566G>C（p.G856R）杂合新发突变，患儿父母该位点均为野生型。患儿临床症状及 遗传学特征均符合原发性红斑肢痛症，经腰交感神经节阻滞术治疗后，疼痛有所缓解。儿童及青少年期出现肢端疼 痛，尤其和温度变化相关，伴随皮温增高、患处红肿时，要考虑原发性红斑肢痛症的可能，SCN9A 基因分析有助于 确诊。

关键词: 红斑性肢痛病, 疼痛, 儿童, 病例报告, SCN9A基因

Abstract: Abstract: Primary erythermalgia is a rare clinical syndrome characterized by intermittent elevated skin temperature, acrodynia, inflamed and swelling and burning pain in skin of bilateral limb. For clinical and genetic studies of primary erythermalgia, only a few cases were reported in China. This study retrospectively analyzed the clinical characteristics and genetic phenotypes of a child with primary erythermalgia diagnosed by genetics. The boy was firstly showed his symptom as acrodynia when he was 8 years old. The pain was related with temperature. The affected skin was inflamed and skin temperature was elevated. At the age of 10, the acrodynia was aggravated, and the child was admitted to our hospital one year later. A heterozygous c.2566G>C (p.G856R) mutation was identified in SCN9A gene, which was not found in both parents. The clinical symptoms and genetic characteristics of the child were in line with primary erythermalgia. It was relieved after lumbar sympathetic block treatment. When acrodynia in children and adolescents especially related to temperature changes, accompanied by the inflamed and swelling limb, the possibility of primary erythermalgia should be considered. SCN9A gene analysis is helpful for diagnosis.

Key words: erythromelalgia, pain, child, case reports, SCN9A gene