Suppr超能文献

周期性瘫痪的诊断与治疗综述。

Review of the Diagnosis and Treatment of Periodic Paralysis.

机构信息

Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, Kansas, 66160, USA.

Sorbonne-Université, INSERM, AP-HP, Reference Center for Channelopathies, Department of Neuology, University Hospital Pitié-Salpêtrière, Paris, France.

出版信息

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29.

Abstract

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.

摘要

周期性瘫痪(PPs)是一种罕见的神经肌肉疾病,由骨骼肌钠、钙和钾通道基因突变引起。PPs 包括低钾性瘫痪、高钾性瘫痪和 Andersen-Tawil 综合征。PP 的常见特征包括常染色体显性遗传、通常在第一或第二个十年发病、发作性弛缓性无力、常由饮食或运动后休息引起。诊断基于特征性临床表现,然后通过基因检测确认。在未发现明确基因突变的情况下,发作期间低钾或高钾血症或长时间运动试验的递减可支持诊断。治疗方法应包括急性发作的管理和发作的预防。治疗包括针对避免诱因的行为干预、钾水平的调节、利尿剂和碳酸酐酶抑制剂。肌肉神经 57:522-530,2018。

相似文献

1
Review of the Diagnosis and Treatment of Periodic Paralysis.周期性瘫痪的诊断与治疗综述。
Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29.
2
Periodic paralysis.周期性瘫痪
Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8.
4
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.
5
Treatment for periodic paralysis.周期性麻痹的治疗。
Cochrane Database Syst Rev. 2008 Jan 23(1):CD005045. doi: 10.1002/14651858.CD005045.pub2.
9
Episodic Muscle Disorders.发作性肌肉疾病
Continuum (Minneap Minn). 2019 Dec;25(6):1696-1711. doi: 10.1212/CON.0000000000000802.
10
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.

引用本文的文献

1
Hypokalemic Paralysis Is Not Always Periodic: A Case Series.低钾性麻痹并非总是周期性的:病例系列
Case Rep Med. 2025 Aug 25;2025:9925534. doi: 10.1155/carm/9925534. eCollection 2025.

本文引用的文献

3
Channelopathies of skeletal muscle excitability.骨骼肌兴奋性通道病
Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062.
6
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.肌肉离子通道病:非营养不良性肌强直和周期性瘫痪。
Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614. doi: 10.1212/01.CON.0000440661.49298.c8.
10

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验