一名患有SCN9A突变、确诊为原发性红斑性肢痛症和阵发性剧痛障碍的患者出现双侧先天性角膜麻醉。
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.
作者信息
Kim David Ta, Rossignol Elsa, Najem Kinda, Ospina Luis H
机构信息
Department of Ophthalmology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
Department of Neurology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
出版信息
J AAPOS. 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015.
The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
SCN9A基因编码电压门控性钠通道NaV 1.7。功能获得性突变会引发疼痛障碍，如原发性红斑性肢痛症、阵发性剧痛症和小纤维神经病变。功能丧失性突变则会导致先天性无痛觉。我们报告了一例携带SCN9A突变的6岁女孩病例，该女孩同时表现出功能获得性和功能丧失性表型，包括先天性角膜麻醉。
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