诊断和治疗由乳糜泻引起的神经症状患者的诊断和治疗方案

Domantas Jakubauskas, R. Mameniškienė
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摘要

乳糜泻(CD)是一种胃肠道疾病,由免疫系统对麸质的反应引起,涉及先天性免疫反应和适应性免疫反应。它会导致各种神经系统问题,如麸质共济失调、麸质神经病、癫痫和麸质脑病。虽然神经系统表现在儿童中很少见,但在多达 36% 的 CD 成年患者中都可观察到。最近的证据表明,这些表现可能与麸质相关机制有关,包括抗体交叉反应、免疫复合物沉积、直接神经毒性,严重时还可能与维生素或营养素缺乏有关。然而,对于血清学、神经生理学或神经影像学检查结果是否能有效诊断和早期监测 CD 相关神经系统问题,目前仍未达成共识。确定多模态生物标志物和合适的神经影像学工具有助于诊断、监测和提高神经糜烂性疾病患者的生活质量。尽管如此,为患有 CD 和神经系统症状的患者提供适当的治疗是至关重要的,因为长期的痛苦可能会导致不可逆转的残疾。麸质相关疾病神经系统表现的主要治疗方法是严格的无麸质饮食,但少数患者可能需要额外的免疫抑制治疗,通常使用霉酚酸盐或静脉注射免疫球蛋白。在这篇文献综述中,我们的目的是探讨与 CD 相关的神经系统疾病、早期诊断和治疗方案,以防止患者出现相关残疾。对于出现不明原因神经功能障碍的患者,临床医生应将 CD 视为潜在病因。
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Pacientų, turinčių celiakijos sukeltų neurologinių simptomų, diagnostikos ir gydymo galimybės
Celiac disease (CD) is a gastrointestinal disorder caused by the immune system’s response to gluten, involving both innate and adaptive immune reactions. It leads to various neurological issues, such as gluten ataxia, gluten neuropathy, epilepsy, and gluten encephalopathy. Although neurological presentations are rare in children, they are observed in up to 36% of adult patients with CD. Recent evidence suggests that these manifestations may be linked to gluten-related mechanisms, including antibody cross-reactions, immune-complex deposition, direct neurotoxicity, and, in severe cases, vitamin or nutrient deficiencies. However, there is still no consensus on whether serological, neurophysiological, or neuroimaging findings can effectively diagnose and monitor CD-associated neurological problems at an early stage. The identification of multimodal biomarkers and suitable neuroimaging tools could aid in the diagnosis, monitoring, and enhancement of the quality of life for individuals with neuroceliac disease. Nonetheless, it is essential to provide appropriate treatment to those with CD and neurological symptoms, as prolonged suffering may lead to irreversible disability. The primary treatment for neurological manifestations of gluten-related disorders is a strict gluten-free diet, although a small number of patients may require additional immunosuppressive therapy, typically using mycophenolate or intravenous immunoglobulins. In this literature review, our aim was to explore the relevant neurological disorders associated with CD, early diagnostic and treatment options to prevent related disability in affected patients. Clinicians should consider CD as a potential cause in individuals presenting with unexplained neurological dysfunction.
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