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.
Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29.
2
Periodic paralysis.
Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8.
3
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Neuromuscul Disord. 2021 Jul;31(7):656-659. doi: 10.1016/j.nmd.2021.04.001. Epub 2021 Apr 24.
4
Primary periodic paralyses.
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.
Cochrane Database Syst Rev. 2008 Jan 23(1):CD005045. doi: 10.1002/14651858.CD005045.pub2.
7
[Periodic paralysis: new pathophysiological aspects].
Bull Acad Natl Med. 2008 Nov;192(8):1543-8; discussion 1549-50.
8
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Brain. 2006 Jan;129(Pt 1):8-17. doi: 10.1093/brain/awh639. Epub 2005 Sep 29.
9
Episodic Muscle Disorders.
Continuum (Minneap Minn). 2019 Dec;25(6):1696-1711. doi: 10.1212/CON.0000000000000802.
10
Correlating phenotype and genotype in the periodic paralyses.
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.
Case Rep Med. 2025 Aug 25;2025:9925534. doi: 10.1155/carm/9925534. eCollection 2025.
2
Molecular genetics of skeletal muscle channelopathies.
J Hum Genet. 2025 Aug 6. doi: 10.1038/s10038-025-01370-w.
3
Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.
Diagnostics (Basel). 2025 Jun 19;15(12):1568. doi: 10.3390/diagnostics15121568.
5
Rebound Hyperkalemia in Hypokalemic Thyrotoxic Periodic Paralysis.
Neurohospitalist. 2025 Jun 2:19418744251347781. doi: 10.1177/19418744251347781.
6
Chasing Highs, Experiencing Lows: A Case of Hypokalemia Associated With Cannabis Use.
Cureus. 2025 Apr 29;17(4):e83194. doi: 10.7759/cureus.83194. eCollection 2025 Apr.
7
When Potassium Takes a Break: A Case Series of 3 Cases on Hypokalemic Periodic Paralysis.
Clin Case Rep. 2025 Apr 29;13(5):e70425. doi: 10.1002/ccr3.70425. eCollection 2025 May.
9
Atypical Electrophysiological Pattern in Hypokalemic Periodic Paralysis With CACNA1S Mutation: A Case Report.
Cureus. 2025 Feb 24;17(2):e79539. doi: 10.7759/cureus.79539. eCollection 2025 Feb.
10
Broadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.
Ann Indian Acad Neurol. 2025 Mar 1;28(2):299-301. doi: 10.4103/aian.aian_904_24. Epub 2025 Mar 25.

本文引用的文献

1
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.
Front Pharmacol. 2016 May 10;7:121. doi: 10.3389/fphar.2016.00121. eCollection 2016.
2
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.
Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.
3
Channelopathies of skeletal muscle excitability.
Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062.
4
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.
Heart Rhythm. 2015 Mar;12(3):596-603. doi: 10.1016/j.hrthm.2014.12.009. Epub 2014 Dec 10.
5
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.
6
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.
Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614. doi: 10.1212/01.CON.0000440661.49298.c8.
7
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.
Brain. 2013 Dec;136(Pt 12):3766-74. doi: 10.1093/brain/awt280. Epub 2013 Oct 18.
8
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
J Neurol. 2013 Oct;260(10):2606-13. doi: 10.1007/s00415-013-7025-9. Epub 2013 Jul 25.
9
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
Europace. 2013 Dec;15(12):1805-11. doi: 10.1093/europace/eut160. Epub 2013 Jul 17.
10
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

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