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Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. Epub 2020 Nov 9.
2
Autoimmune polyglandular syndrome type 2 and autoimmune hepatitis with thymoma-associated myasthenia gravis: case report.自身免疫性多腺体综合征 2 型和伴有胸腺瘤相关重症肌无力的自身免疫性肝炎:病例报告。
BMC Endocr Disord. 2020 Apr 7;20(1):47. doi: 10.1186/s12902-020-0498-5.
3
A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue.一名患有持续性疲劳的儿童罕见的2型自身免疫性多内分泌腺综合征病例。
Glob Pediatr Health. 2019 May 1;6:2333794X19845074. doi: 10.1177/2333794X19845074. eCollection 2019.
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Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.2型自身免疫性多内分泌腺综合征病例:我们是如何确诊的。
BMJ Case Rep. 2019 Feb 26;12(2):e227187. doi: 10.1136/bcr-2018-227187.
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Recent advances in understanding and managing myasthenia gravis.重症肌无力理解与管理方面的最新进展
F1000Res. 2018 Oct 31;7. doi: 10.12688/f1000research.15973.1. eCollection 2018.
6
Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society.重症肌无力的临床特征、发病机制及治疗:德国神经病学学会指南补编
J Neurol. 2016 Aug;263(8):1473-94. doi: 10.1007/s00415-016-8045-z. Epub 2016 Feb 17.
7
Autoimmune polyglandular syndrome type 2: a rare condition in childhood.自身免疫性多内分泌腺综合征2型:一种儿童期罕见疾病。
J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):80-2. doi: 10.4274/jcrpe.1394.
8
LRP4 is critical for neuromuscular junction maintenance.低密度脂蛋白受体相关蛋白4(LRP4)对神经肌肉接头的维持至关重要。
J Neurosci. 2014 Oct 15;34(42):13892-905. doi: 10.1523/JNEUROSCI.1733-14.2014.
9
A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis.抗 LRP4 抗体在重症肌无力中的流行病学和临床特征的综合分析。
J Autoimmun. 2014 Aug;52:139-45. doi: 10.1016/j.jaut.2013.12.004. Epub 2013 Dec 24.
10
Antibodies against low-density lipoprotein receptor-related protein 4 induce myasthenia gravis.针对低密度脂蛋白受体相关蛋白 4 的抗体可诱发重症肌无力。
J Clin Invest. 2013 Dec;123(12):5190-202. doi: 10.1172/JCI66039. Epub 2013 Nov 8.

巴勒斯坦首例被确诊为伴有重症肌无力的2型自身免疫性多腺体综合征:病例报告及文献综述

First case recognized as autoimmune polyglandular syndrome type 2 with myasthenia gravis in Palestine: A case report and literature review.

作者信息

Abuzneid Yousef S, Yaghi Yasmine, Madia Arein, Salhab Nataly, Amro Naser, Abukhalaf Sadi A, Kharraz Mohammad

机构信息

Al-Quds University Faculty of Medicine, Jerusalem, Palestine.

An-Najah National University Hospital, Nablus, Palestine.

出版信息

Ann Med Surg (Lond). 2021 Jul 16;68:102575. doi: 10.1016/j.amsu.2021.102575. eCollection 2021 Aug.

DOI:10.1016/j.amsu.2021.102575
PMID:34336199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8318843/
Abstract

BACKGROUND

Myasthenia gravis is an organ specific autoimmune disorder that is potentially serious but treatable. It is characterized by fatigability of the voluntary muscles and weakness caused by antibodies against the nicotinic acetylcholine receptor (AChR) on the postsynaptic membrane at the neuromuscular junction.Sometimes, and in very rare cases, it can be associated with other autoimmune conditions in a so called autoimmune polyglandular syndrome type 2, which consists mainly of autoimmune adrenal insufficiency (Addison's disease) with autoimmune thyroid disease and/or type 1 diabetes mellitus.

CASE PRESENTATION

We describe a case of a 47-year-old male patient presenting with weakness, difficulty swallowing (mainly liquids) and dysarthria. He was discovered to have low cortisol and TSH levels with high T4 and T3. These findings lead to the suspicion of a more complex disease process and through a thorough research of literature we discovered an association between myasthenia gravis and autoimmune polyglandular syndrome specifically type 2 which fits with our patients' presentation.

CONCLUSION

In any autoimmune disease, it is important to keep in mind associations and susceptibilities to other autoimmune processes and syndromes in order to reach a correct diagnosis and treatment preventing life threating events.

摘要

背景

重症肌无力是一种器官特异性自身免疫性疾病,可能很严重但可治疗。其特征是随意肌疲劳以及由针对神经肌肉接头处突触后膜上烟碱型乙酰胆碱受体(AChR)的抗体引起的肌无力。有时,在非常罕见的情况下,它可能与所谓的2型自身免疫性多腺体综合征中的其他自身免疫性疾病相关,该综合征主要由自身免疫性肾上腺功能不全(艾迪生病)伴自身免疫性甲状腺疾病和/或1型糖尿病组成。

病例介绍

我们描述了一名47岁男性患者的病例,该患者表现为肌无力、吞咽困难(主要是液体)和构音障碍。他被发现皮质醇和促甲状腺激素水平低,而T4和T3水平高。这些发现引发了对更复杂疾病过程的怀疑,通过对文献的深入研究,我们发现重症肌无力与特别是2型自身免疫性多腺体综合征之间存在关联,这与我们患者的表现相符。

结论

在任何自身免疫性疾病中,重要的是要牢记与其他自身免疫过程和综合征的关联及易感性,以便做出正确的诊断和治疗,预防危及生命的事件。