Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel α subunit Nav1.7
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel α subunit Nav1.7
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DOI：
10.1001/archneur.62.10.1587
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发表时间：
2005-10-01
影响因子：
--
通讯作者：
Drenth, JPH
中科院分区：
文献类型：
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作者：
Michiels, JJ;te Morsche, RHM;Drenth, JPH
背景资料：常染色体显性遗传的原发性冷痛症是一种罕见的疾病，其特征是反复发作的红色，温暖，和痛苦的手和/或脚。目的：描述一个10人家庭的表型和分子数据，其中5例有症状的生活患者。该家系临床表现为发作性或持续性对称性红肿，刺激性温热，温暖和运动引起或加剧的足部和小腿灼热疼痛，通常通过应用寒冷，如将足部放入（冰）冷水中来缓解。在这个家庭的症状只有部分控制镇痛药和镇静剂。所有患者均为电压门控钠通道α亚基Nav1.7的一个新突变（S241 T）杂合子。结论：原发性红斑性肢痛症可能是一种外周感觉和交感神经元的神经病理性疾病，可能与Nav1.7的过度兴奋有关。
Background: Autosomal dominant primary crythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet.Objective: To describe the phenotypes and molecular data of a 10-member family with 5 symptomatic living patients with erythermalgia.Results: The clinical phenotype of this family was featured by episodic or continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower legs provoked or aggravated by warmth and exercise, and relief was always obtained by application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel a subunit Nav1.7.Conclusion: Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.