Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome
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DOI：
10.1111/j.1749-6632.1998.tb10929.x
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发表时间：
1998-01-01
期刊：
影响因子：
--
通讯作者：
Engel, AG
中科院分区：
文献类型：
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作者：
Harper, CM;Engel, AG
慢通道先天性肌无力综合征（SCCMS）是一种常染色体显性遗传疾病，其特征是AChR单通道开放延长和终板电位衰减常数延长。1 SCCMS的弱点是对胆碱酯酶抑制剂无反应，是由于AChR的去极化阻滞以及突触后区域阳离子过载引起的终板肌病所致。1-3神经传导研究表明，重复复合肌肉动作电位（R-CMAP）与单一刺激和频率依赖性递减的主要CMAP（M-CMAP）。我们最近证实，硫酸奎尼丁在浓度< 5 M时缩短AChR的开放时间，而不降低MEPP振幅或量子含量，而在浓度> 10 M时观察到进行性神经肌肉阻滞。4我们报告了6例接受硫酸奎尼丁治疗的患者的临床力量和神经肌肉传递电生理指标的改善。
Slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant disorder characterized by prolonged single-channel openings of the AChR and a prolonged decay constant of the end plate potential. 1 The weakness in SCCMS is unresponsive to cholinesterase inhibitors and results from depolarization block of the AChR as well as an end plate myopathy caused by cationic overload of the postsynaptic region. 1–3 Nerve conduction studies show repetitive compound muscle action potentials (R-CMAP) with single stimuli and a rate-dependent decrement of the main CMAP (M-CMAP) with repetitive stimulation. We recently demonstrated that quinidine sulfate shortens the open time of the AChR without reducing the MEPP amplitude or quantal content at concentrations< 5 M, while at concentrations> 10 M progressive neuromuscular blockade is observed. 4 We report improvement in clinical strength and electrophysiologic measures of neuromuscular transmission in a series of six patients treated with quinidine sulfate.