背景:先天性肌无力综合征(CMSs)是一组异质性的神经肌肉疾病。烟碱乙酰胆碱受体ε亚基基因(CHRNE)的突变是这些疾病的最常见原因。CMS越来越受到临床医生的认可。然而,仅在少数病例报告中讨论了具有CHRNE突变的CMS的药物治疗.
目的:本研究旨在确定如何为CHRNE突变的CMS选择合适的药理学策略。
方法:进行荟萃分析。PubMed,MEDLINE,WebofScience,和Cochrane图书馆数据库在2020年6月1日之前以英文发表的研究进行了搜索。提取的数据包括临床信息,基因突变,药物治疗,和治疗效果。
结果:共有48项研究和208例具有CHRNE突变的CMS患者纳入我们的meta分析。在这些患者中使用了十种不同的药理学策略。我们的研究发现β2-肾上腺素能受体激动剂对CHRNE突变的CMS患者有最好的治疗效果,尤其是原发性AChR缺乏症患者。此外,我们的分析发现,没有证据表明发病年龄影响治疗结果.
结论:这项荟萃分析提供了证据:(1)β2-肾上腺素能受体激动剂治疗可能是治疗CHRNE突变CMS的首选药物策略;(2)单药方案,而不是联合治疗,应该是治疗的首选;(3)开始药物治疗永远不会太晚。
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a heterogeneous group of neuromuscular disorders. Mutations of the nicotinic acetylcholine receptor epsilon subunit gene (CHRNE) are the most common causes of these disorders. CMSs are gaining increasing recognition by clinicians. However, pharmacological treatment of CMS with CHRNE mutations has only been discussed in a small number of case reports.
OBJECTIVE: This study aims to determine how to choose an appropriate pharmacological strategy for CMS with CHRNE mutations.
METHODS: A meta-analysis was performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for studies published in English prior to June 1, 2020. The extracted data included clinical information, gene mutations, pharmacological treatment, and treatment effects.
RESULTS: A total of 48 studies and 208 CMS patients with CHRNE mutations were included in our meta-analysis. Ten different pharmacological strategies were used in these patients. Our research found that β2-adrenergic receptor agonists had the best treatment effect for CMS patients with CHRNE mutations, especially in patients with primary AChR deficiency. In addition, our analysis found no evidence that age at disease onset influences the treatment results.
CONCLUSIONS: This meta-analysis provides evidence that (1) β2-adrenergic receptor agonist therapy could be the first choice of pharmacological strategy for treating CMS with CHRNE mutations; (2) a single-drug-regime, rather than a combination therapy, should be the first choice of treatment; and (3) it is never too late to initiate pharmacological treatment.