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低钾周期性麻痹发病机制的研究进展 被引量:4

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摘要 低钾周期性麻痹(HypoPP)是一组以反复发作的骨骼肌弛缓性瘫痪伴低血钾为特征的疾病,严重者可以引发呼吸肌麻痹,恶性心律失常甚至死亡。目前HypoPP的诊断以临床诊断为主,对该病早期的筛查和诊断尤显重要。研究表明原发性HypoPP与遗传相关,已明确CACNA1S和SCN4A两个相关基因,同样,对甲亢性HypoPP研究认为,它是由遗传易感性、甲状腺毒症和环境因素三者共同作用引起的内分泌性通道疾病。对HypoPP的基因研究不仅丰富该病的基因库,还能早期对可疑基因进行重点筛查,早期识别易感人群,积极避免疾病严重后果发生。现对HypoPP发病机制进行综述,以期为临床工作中对HypoPP的早期筛查和诊断提供参考依据。
出处 《华西医学》 CAS 2014年第4期788-790,共3页 West China Medical Journal
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参考文献27

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二级参考文献15

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