甲状腺毒症性周期性麻痹与内向整流型钾离子通道亚家族 J成员18及成员2基因的关系

摘要

甲状腺毒症性周期性麻痹（TPP）是甲状腺功能亢进症的并发症之一，表现为甲状腺功能亢进症患者突发的可逆性四肢瘫痪伴低钾血症。其发病具有亚洲青壮年男性多发的特点，故遗传背景可能与发病有关。研究证明，骨骼肌上存在大量内向整流钾离子（Kir）通道。近年来发现 Kir 家族成员 Kir2.6及 Kir2.1与 TPP 关系较紧密，其编码基因分别为内向整流型钾离子通道亚家族 J 成员18（KCNJ18）及内向整流型钾离子通道亚家族 J 成员2（KCNJ2）。本文主要概述了 TPP 与 KCNJ18、KCNJ2的研究进展及相关性，为 TPP 致病基因的研究提供最新证据。%Thyrotoxic periodic paralysis(TPP)is one of the complications of thyrotoxicosis,which is characterized by reversible acute quadriplegia and hypokalemia. Asian young men are at high risk of developing TPP,and therefore genetic background is suspected to be involved in the pathogenesis. Studies have shown that there are a large number of inwardly rectifying potassium ion(Kir)channels in skeletal muscle. Kir2. 6 and Kir2. 1 are two of important members of Kir channels,they are encoded by KCNJ18 and KCNJ2 gene,and are closely related to TPP. This review summarizes the research progress of TPP, KCNJ18 and KCNJ2,and relationship between TPP and KCNJ18,KCNJ2,which can provide latest evidence for the search of pathogenic gene of TPP.