应对僵人综合征的复杂性：一例病例报告及文献综述
Navigating the Complexity of Stiff Person Syndrome: A Case Report and Literature Review.
作者信息
Mullins Jordyn, Sheppard Cody, Beyer Brian R, Blacksten Cheri
机构信息
Family Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.
出版信息
Cureus. 2024 Nov 7;16(11):e73219. doi: 10.7759/cureus.73219. eCollection 2024 Nov.
Abstract
Stiff person spectrum disorder is a disease that involves a host of conditions that are associated with glutamic acid decarboxylase 65-kilodalton isoform autoantibodies. These conditions may include diabetes mellitus type 1, pernicious anemia, autoimmune leukoencephalopathy, cerebellar ataxia, and stiff-person syndrome. Clinical recognition and diagnosis of stiff person spectrum disorder are important early, as immunologic treatment options showing reliable efficacy in slowing disease progression are available. This case presents a wide constellation of symptoms in which we describe the pathophysiology, clinical diagnosis, and current as well as future treatment options that may be available. .
摘要
僵人谱系障碍是一种涉及一系列与谷氨酸脱羧酶65千道尔顿同工型自身抗体相关病症的疾病。这些病症可能包括1型糖尿病、恶性贫血、自身免疫性白质脑病、小脑共济失调和僵人综合征。早期对僵人谱系障碍进行临床识别和诊断很重要，因为有显示出在减缓疾病进展方面具有可靠疗效的免疫治疗选择。本病例呈现出一系列广泛的症状，我们将描述其病理生理学、临床诊断以及当前和未来可能可用的治疗选择。
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本文引用的文献
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Late-onset stiff-person syndrome: challenges in diagnosis and management.迟发性僵人综合征：诊断与管理中的挑战
Ther Adv Neurol Disord. 2023 Dec 25;16:17562864231214315. doi: 10.1177/17562864231214315. eCollection 2023.
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Stiff Person Spectrum Disorders-An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives.僵人谱系障碍——临床、病理生理及治疗前景的最新进展与展望
Biomedicines. 2023 Sep 10;11(9):2500. doi: 10.3390/biomedicines11092500.
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Long-term Effectiveness of IVIg Maintenance Therapy in 36 Patients With GAD Antibody-Positive Stiff-Person Syndrome.36 例抗 GAD 抗体阳性僵人综合征患者静脉注射免疫球蛋白维持治疗的长期疗效。
Neurol Neuroimmunol Neuroinflamm. 2022 Jul 7;9(5). doi: 10.1212/NXI.0000000000200011. Print 2022 Sep.
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Stiff person syndrome spectrum disorders; more than meets the eye.僵人综合征谱障碍；比想象的更复杂。
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Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.细菌 GAD 与人类 GAD65 之间的相似性：在肠道介导的自身免疫性 1 型糖尿病中的意义。
PLoS One. 2022 Feb 23;17(2):e0261103. doi: 10.1371/journal.pone.0261103. eCollection 2022.
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