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原发性周期性瘫痪:病因及其发病机制综述

Primary Periodic Paralyses: A Review of Etiologies and Their Pathogeneses.

作者信息

Farooque Umar, Cheema Asfand Yar, Kumar Ranjeet, Saini Gagandeep, Kataria Saurabh

机构信息

Neurology, Dow University of Health Sciences, Karachi, PAK.

Medicine, Lahore Medical and Dental College, Lahore, PAK.

出版信息

Cureus. 2020 Aug 29;12(8):e10112. doi: 10.7759/cureus.10112.

DOI:10.7759/cureus.10112
PMID:33005530
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7523540/
Abstract

Periodic paralyses are a group of disorders characterized by episodes of muscle paralyses. They are mainly divided as primary (hereditary) and secondary (acquired) periodic paralyses. Primary periodic paralyses occur as a result of mutations in genes encoding subunits of muscle membrane channel proteins such as sodium, calcium, and potassium channels, resulting in impairment of their properties. Primary periodic paralyses are further classified on the basis of affected ion channels and other associated complications. Some of these periodic paralyses are hyperkalemic periodic paralysis (Na-channel mutation), hypokalemic periodic paralysis (Na- or Ca-channel mutation), Andersen's syndrome (K-channel mutation), etc.

摘要

周期性麻痹是一组以肌肉麻痹发作为特征的疾病。它们主要分为原发性(遗传性)和继发性(后天性)周期性麻痹。原发性周期性麻痹是由于编码肌肉膜通道蛋白亚基的基因突变所致,如钠、钙和钾通道,导致其特性受损。原发性周期性麻痹根据受影响的离子通道和其他相关并发症进一步分类。其中一些周期性麻痹包括高钾性周期性麻痹(钠通道突变)、低钾性周期性麻痹(钠或钙通道突变)、安德森综合征(钾通道突变)等。

相似文献

1
Primary Periodic Paralyses: A Review of Etiologies and Their Pathogeneses.原发性周期性瘫痪:病因及其发病机制综述
Cureus. 2020 Aug 29;12(8):e10112. doi: 10.7759/cureus.10112.
2
Primary periodic paralyses.原发性周期性麻痹
Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20.
3
Periodic paralysis.周期性瘫痪
Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8.
4
Correlating phenotype and genotype in the periodic paralyses.周期性麻痹中表型与基因型的关联
Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00.
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Different gene loci for hyperkalemic and hypokalemic periodic paralysis.高钾性和低钾性周期性麻痹的不同基因位点。
Neuromuscul Disord. 1991;1(4):235-8. doi: 10.1016/0960-8966(91)90095-a.
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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.先天性副肌强直症和高钾性周期性麻痹与成人肌肉钠通道基因有关。
Ann Neurol. 1991 Dec;30(6):810-6. doi: 10.1002/ana.410300610.
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Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies.肌肉活检与细胞培养:遗传性骨骼肌离子通道病的潜在诊断工具。
Eur J Histochem. 2003;47(1):17-28. doi: 10.4081/803.
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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.先天性副肌强直和高钾性周期性麻痹中的钠通道突变。
Ann Neurol. 1993 Mar;33(3):300-7. doi: 10.1002/ana.410330312.
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[Current status of clinical and molecular-biological research on familial periodic paralysis].[家族性周期性麻痹的临床及分子生物学研究现状]
Nihon Rinsho. 1997 Dec;55(12):3239-46.
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Molecular basis for hyperkalemic periodic paralysis.高钾性周期性麻痹的分子基础。
Int J Neurol. 1991;25-26:89-96.

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Hypokelemic Periodic Paralysis in Pregnancy-A Rare Case Study.妊娠合并低钾性周期性麻痹——一例罕见病例研究
J Obstet Gynaecol India. 2025 Apr;75(Suppl 1):635-637. doi: 10.1007/s13224-024-02068-3. Epub 2024 Nov 22.

本文引用的文献

1
Clinical and Etiological Spectrum of Hypokalemic Periodic Paralysis in a Tertiary Care Hospital in Pakistan.巴基斯坦一家三级护理医院低钾性周期性麻痹的临床及病因谱
Cureus. 2019 Jan 19;11(1):e3921. doi: 10.7759/cureus.3921.
2
Primary periodic paralyses.原发性周期性麻痹
Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20.
3
The nondystrophic myotonias.非营养不良性肌强直
Neurotherapeutics. 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012.
4
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.高钾性周期性麻痹的基因型-表型相关性及治疗原理
Neurotherapeutics. 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001.
5
In vivo and in vitro functional characterization of Andersen's syndrome mutations.安德森综合征突变的体内和体外功能特性分析
J Physiol. 2005 Jun 15;565(Pt 3):731-41. doi: 10.1113/jphysiol.2004.081620. Epub 2005 Apr 14.
6
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.由SCN4A钠通道突变引起的肌无力综合征。
Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23.
7
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).与LQT7(安德森综合征)相关的KCNJ2突变的功能和临床特征
J Clin Invest. 2002 Aug;110(3):381-8. doi: 10.1172/JCI15183.
8
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.Kir2.x钾通道的异源二聚化导致安德森综合征的表型。
Proc Natl Acad Sci U S A. 2002 May 28;99(11):7774-9. doi: 10.1073/pnas.102609499.
9
Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes.导致低钾性周期性麻痹的突变对非洲爪蟾卵母细胞中表达的骨骼肌L型钙离子通道的影响。
J Physiol. 1999 Oct 15;520 Pt 2(Pt 2):321-36. doi: 10.1111/j.1469-7793.1999.00321.x.