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神经结节病:关于诊断、管理及未来方向的当前观点

Neurosarcoidosis: Current Perspectives on Diagnosis, Management, and Future Directions.

作者信息

Sinha Tanya, Tahir Sohaira, Namal Fnu, Vineesha Fnu, Warsha Fnu, Ahmed Zeeshan, Bokhari Syed Faqeer Hussain, Haris Muhammad, Khan Muhammad Mudasser

机构信息

Internal Medicine, Tribhuvan University, Kathmandu, NPL.

Internal Medicine, Avicenna Medical College, Lahore, PAK.

出版信息

Cureus. 2024 Sep 11;16(9):e69208. doi: 10.7759/cureus.69208. eCollection 2024 Sep.

Abstract

Neurosarcoidosis, a manifestation of sarcoidosis affecting the central or peripheral nervous system, presents unique challenges in diagnosis and management. Neurosarcoidosis can manifest with a wide range of symptoms, including cranial neuropathies, seizures, meningitis, and cognitive impairments. The heterogeneity of presentations often leads to diagnostic delays and complications. Diagnosis relies on a combination of clinical features, neuroimaging, cerebrospinal fluid analysis, and evidence of systemic sarcoidosis. Recent advances in imaging techniques, including high-resolution MRI, positron emission tomography (PET) scans, and novel biomarkers, have improved diagnostic accuracy. However, distinguishing neurosarcoidosis from mimicking conditions such as multiple sclerosis remains challenging. Treatment typically begins with corticosteroids, often requiring long-term immunosuppression. Second-line agents such as methotrexate and mycophenolate mofetil are frequently used as steroid-sparing options. Biologic therapies, particularly Tumor necrosis factor-alpha (TNF-α) inhibitors like infliximab, have shown promise in refractory cases. The long-term management of neurosarcoidosis necessitates a multidisciplinary approach with regular monitoring of disease activity and treatment response. Despite advancements, significant knowledge gaps persist in understanding the etiology, pathophysiology, and optimal management of neurosarcoidosis. Future research directions include identifying specific biomarkers, developing targeted therapies, and exploring novel imaging techniques. The rarity and heterogeneity of neurosarcoidosis underscore the importance of multicenter studies and international collaborations to advance our understanding and improve patient outcomes. Emerging technologies and innovative therapeutic approaches offer promising avenues for enhancing diagnosis and treatment in the coming years.

摘要

神经结节病是结节病累及中枢或周围神经系统的一种表现,在诊断和管理方面存在独特挑战。神经结节病可表现出多种症状,包括颅神经病变、癫痫发作、脑膜炎和认知障碍。临床表现的异质性常常导致诊断延误和并发症。诊断依赖于临床特征、神经影像学、脑脊液分析以及系统性结节病的证据。包括高分辨率磁共振成像(MRI)、正电子发射断层扫描(PET)以及新型生物标志物在内的成像技术的最新进展提高了诊断准确性。然而,将神经结节病与诸如多发性硬化等类似病症区分开来仍然具有挑战性。治疗通常从使用皮质类固醇开始,常常需要长期免疫抑制。诸如甲氨蝶呤和霉酚酸酯等二线药物经常作为减少类固醇用量的选择。生物疗法,特别是诸如英夫利昔单抗等肿瘤坏死因子-α(TNF-α)抑制剂,在难治性病例中已显示出前景。神经结节病的长期管理需要多学科方法,并定期监测疾病活动和治疗反应。尽管取得了进展,但在理解神经结节病的病因、病理生理学和最佳管理方面仍存在重大知识空白。未来的研究方向包括确定特定生物标志物、开发靶向疗法以及探索新型成像技术。神经结节病的罕见性和异质性凸显了多中心研究和国际合作对于增进我们的理解和改善患者预后的重要性。新兴技术和创新治疗方法为未来几年提高诊断和治疗水平提供了有希望的途径。

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J Family Med Prim Care. 2024 May;13(5):2157-2160. doi: 10.4103/jfmpc.jfmpc_987_23. Epub 2024 May 24.
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Neurosarcoidosis: Diagnostic Challenges and Mimics A Review.神经结节病:诊断挑战及类似疾病综述
Curr Allergy Asthma Rep. 2023 Jul;23(7):399-410. doi: 10.1007/s11882-023-01092-z. Epub 2023 May 31.
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The role of PET in the management of sarcoidosis.PET 在结节病管理中的作用。
Curr Opin Pulm Med. 2022 Sep 1;28(5):485-491. doi: 10.1097/MCP.0000000000000892. Epub 2022 Jul 16.
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Neurosarcoidosis: Pathophysiology, Diagnosis, and Treatment.神经结节病:病理生理学、诊断和治疗。
Neurol Neuroimmunol Neuroinflamm. 2021 Oct 4;8(6). doi: 10.1212/NXI.0000000000001084. Print 2021 Nov.

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