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

doi:10.3969/j.issn.1007-9572.2016.27.024

摘要/Abstract

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。

关键词: 低钾性周期性麻痹, 甲状腺毒症性周期性麻痹, KCNJ18, KCNJ2

Abstract: 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.

Key words: Hypokalemic periodic paralysis:Thyrotoxic periodic paralysis, KCNJ18, KCNJ2

叶艳, 姚渝, 田浩明. 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[J]. 中国全科医学, 2016, 19(27): 3380-3384.

YE Yan, YAO Yu, TIAN Hao-ming. Relationship between Thyrotoxic Periodic Paralysis and KCNJ18,KCNJ2[J]. Chinese General Practice, 2016, 19(27): 3380-3384.

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