Ruggieri V L, Arberas C L
Servicio de Neurología, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
Rev Neurol. 2002;34(2):150-6.
The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels.
In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement non dystrophic myotonia, paramyotonias and periodic paralysis, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies.
Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment.
离子通道是复杂的糖蛋白结构，其穿过脂质细胞膜，并借助电化学梯度使带电离子从细胞膜的一侧通过到另一侧。通道病是由于离子通道功能异常引起的疾病。
在本研究中，我们特别分析了伴有神经肌肉受累的遗传性通道病，包括非营养不良性肌强直、副肌强直和周期性瘫痪，并对临床、生理病理、分子、遗传和治疗方面进行分类。我们尽可能根据所涉及的通道，将不同情况进行划分，这些情况是由影响钠、钙、氯和钾通道的突变引起的。我们还纳入了可能由通道病引起的神经性肌强直现象。
本文所讨论的许多病症可能不久后就会有更完善的生理病理解释、更具特异性的诊断方法以及更合理的治疗方案。
