合并低钾型周期性麻痹的手术患者基因突变筛查及麻醉处理

目的 通过筛查原发性低钾型周期性麻痹(hypokalaemic periodic paralysis,HOKPP)相关基因突变位点,探讨合并HOKPP患者的手术麻醉处理方法 .总结该类患者麻醉处理注意事项.方法 应用PCR-直接测序技术.对5例HOKPP患者进行候选基因CACNAlS和SCN4A筛查.并对该5例患者在静脉复合气管插管全麻下,分别施行上腹部手术、声带息肉摘除术及鼻息肉摘除术,麻醉诱导用眯达唑仑0.1mg/kg.丙泊酚2mg/kg,芬太尼4 μg/kg,罗库澳铵0.6mg/kg.麻醉维持间断静注芬太尼、罗库溴铵,持续微泵静注丙泊酚.结果 DNA测序结果 发现1例患者的CACNA1S基因外显子30上存在3716(G→A)杂合突变.导致氨基酸序列R1239H改变.该组HOKPP患者在围手术期生命体征稳定,手术过程顺利.未出现血电解质紊乱、心律失常、HOKPP发作、恶性高热等麻醉意外和并发症.术毕至气管拔管的时间为40～90min.结论 HOKPP存在CACNA1S基因突变,在手术过程中应注意HOKPP患者的血钾浓度变化,心电图监测,避免心律失常发生,同时注意麻醉方式和麻醉药物的选择,避免麻醉药物选择不当诱发HOKPP、恶性高热等麻醉意外和严重并发症.

Gene mutation screening and anaesthetic management in the operating patients with hypokalaemic periodic paralysis

Objective Mutation screening was performed in five patients with hypokalaemic periodic paralysis(HOKPP) to locat the corresponding mutations. Anaesthetic means and the announcements to operating patiens with HOKPP were summarized. Methods Applying target-exon PCR and DNA direct sequencing,to research mutations in the CACNA1S, SCN4A genes of five patients with HOKPP.The patients underwent operation upon abdominal region, polyp of vocal cord extraction and nasal polyp extraction,respectively.Anaesthesia was i...