自身免疫性结节病诊疗进展
Progress in the Diagnosis and Treatment of Autoimmune Nodopathies
DOI: 10.12677/acm.2024.1461892, PDF,   
作者: 黄渝窈, 蒋 莉*：重庆医科大学附属儿童医院神经内科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，重庆
关键词: 自身免疫性结节病；慢性炎性脱髓鞘性多发性神经根神经病；儿童；Autoimmune Nodopathies； Chronic Inflammatory Demyelinating Polyneuropathy； Children
摘要: 既往在自身免疫性神经病患者中发现针对结旁蛋白的特异性自身抗体。这些特定抗体与特定的临床病理特征相关，不同于经典的慢性炎症性脱髓鞘多神经根神经病。这些患者目前被单独归类为自身免疫性结节病(Autoimmune Nodopathies, AN)。儿童自身免疫性结节病作为从慢性炎症性脱髓鞘多神经病变演变出的独立新型疾病概念，对其认识尚不足。本研究旨在归纳自身免疫性结节病的临床特征及治疗方案选择，以提高对其疾病的认识。
Abstract: Specific autoantibodies against paraprotein have previously been found in patients with autoimmune neuropathies. These specific antibodies have been associated with specific clinicopathological features, distinct from the classical chronic inflammatory demyelinating polyradiculoneuropathy. These patients are now classified separately as autoimmune nodopathies (AN). Autoimmune nodopathies in children are poorly understood as a separate novel disease concept evolving from chronic inflammatory demyelinating polyneuropathy. This study aimed to summarize the clinical features of autoimmune nodopathies and the choice of a therapeutic regimen to improve the understanding of their disease.
文章引用：黄渝窈, 蒋莉. 自身免疫性结节病诊疗进展[J]. 临床医学进展, 2024, 14(6): 1157-1165. https://doi.org/10.12677/acm.2024.1461892

参考文献

[1] Pascual-Goñi, E., Martín-Aguilar, L. and Querol, L. (2019) Autoantibodies in Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Current Opinion in Neurology, 32, 651-657. [Google Scholar] [CrossRef] [PubMed]
[2] Broers, M.C., Wieske, L., Erdag, E., Gürlek, C., Bunschoten, C., van Doorn, P.A., et al. (2023) Clinical Relevance of Distinguishing Autoimmune Nodopathies from CIDP: Longitudinal Assessment in a Large Cohort. Journal of Neurology, Neurosurgery & Psychiatry, 95, 52-60. [Google Scholar] [CrossRef] [PubMed]
[3] Van den Bergh, P.Y.K., van Doorn, P.A., Hadden, R.D.M., Avau, B., Vankrunkelsven, P., Allen, J.A., et al. (2021) European Academy of Neurology/Peripheral Nerve Society Guideline on Diagnosis and Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Report of a Joint Task Force—Second Revision. European Journal of Neurology, 28, 3556-3583. [Google Scholar] [CrossRef] [PubMed]
[4] Querol, L., Nogales-Gadea, G., Rojas-Garcia, R., Martinez-Hernandez, E., Diaz-Manera, J., Suárez-Calvet, X., et al. (2012) Antibodies to Contactin-1 in Chronic Inflammatory Demyelinating Polyneuropathy. Annals of Neurology, 73, 370-380. [Google Scholar] [CrossRef] [PubMed]
[5] Ogata, H., Yamasaki, R., Hiwatashi, A., Oka, N., Kawamura, N., Matsuse, D., et al. (2015) Characterization of IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy. Annals of Clinical and Translational Neurology, 2, 960-971. [Google Scholar] [CrossRef] [PubMed]
[6] Pascual-Goñi, E., Fehmi, J., Lleixà, C., Martín-Aguilar, L., Devaux, J., Höftberger, R., et al. (2021) Antibodies to the Caspr1/Contactin-1 Complex in Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Brain, 144, 1183-1196. [Google Scholar] [CrossRef] [PubMed]
[7] Wang, L., Pan, J., Meng, H., Yang, Z., Zeng, L. and Liu, J. (2022) Anti-NF155/NF186 IgG4 Antibody Positive Autoimmune Nodopathy. Brain Sciences, 12, Article 1587. [Google Scholar] [CrossRef] [PubMed]
[8] Gao, Y., Kong, L., Liu, S., Liu, K. and Zhu, J. (2021) Impact of Neurofascin on Chronic Inflammatory Demyelinating Polyneuropathy via Changing the Node of Ranvier Function: A Review. Frontiers in Molecular Neuroscience, 14, Article 779385. [Google Scholar] [CrossRef] [PubMed]
[9] Rasband, M.N. and Peles, E. (2020) Mechanisms of Node of Ranvier Assembly. Nature Reviews Neuroscience, 22, 7-20. [Google Scholar] [CrossRef] [PubMed]
[10] Uncini, A. and Vallat, J. (2017) Autoimmune Nodo-Paranodopathies of Peripheral Nerve: The Concept Is Gaining Ground. Journal of Neurology, Neurosurgery & Psychiatry, 89, 627-635. [Google Scholar] [CrossRef] [PubMed]
[11] Uncini, A. and Kuwabara, S. (2015) Nodopathies of the Peripheral Nerve: An Emerging Concept. Journal of Neurology, Neurosurgery & Psychiatry, 86, 1186-1195. [Google Scholar] [CrossRef] [PubMed]
[12] Zhang, Y., Bekku, Y., Dzhashiashvili, Y., Armenti, S., Meng, X., Sasaki, Y., et al. (2012) Assembly and Maintenance of Nodes of Ranvier Rely on Distinct Sources of Proteins and Targeting Mechanisms. Neuron, 73, 92-107. [Google Scholar] [CrossRef] [PubMed]
[13] Manso, C., Querol, L., Lleixà, C., Poncelet, M., Mekaouche, M., Vallat, J., et al. (2019) Anti-Neurofascin-155 IgG4 Antibodies Prevent Paranodal Complex Formation in vivo. Journal of Clinical Investigation, 129, 2222-2236. [Google Scholar] [CrossRef] [PubMed]
[14] Manso, C., Querol, L., Mekaouche, M., Illa, I. and Devaux, J.J. (2016) Contactin-1 IgG4 Antibodies Cause Paranode Dismantling and Conduction Defects. Brain, 139, 1700-1712. [Google Scholar] [CrossRef] [PubMed]
[15] Cortese, A., Lombardi, R., Briani, C., Callegari, I., Benedetti, L., Manganelli, F., et al. (2020) Antibodies to Neurofascin, Contactin-1, and Contactin-Associated Protein 1 in CIDP. Neurology Neuroimmunology & Neuroinflammation, 7, e639. [Google Scholar] [CrossRef] [PubMed]
[16] Dalakas, M.C. (2022) IgG4-mediated Neurologic Autoimmunities. Neurology Neuroimmunology & Neuroinflammation, 9, e1116. [Google Scholar] [CrossRef] [PubMed]
[17] Doppler, K., Schuster, Y., Appeltshauser, L., Biko, L., Villmann, C., Weishaupt, A., et al. (2019) Anti-CNTN1 IgG3 Induces Acute Conduction Block and Motor Deficits in a Passive Transfer Rat Model. Journal of Neuroinflammation, 16, Article No. 73. [Google Scholar] [CrossRef] [PubMed]
[18] Koike, H., Kadoya, M., Kaida, K., Ikeda, S., Kawagashira, Y., Iijima, M., et al. (2017) Paranodal Dissection in Chronic Inflammatory Demyelinating Polyneuropathy with Anti-Neurofascin-155 and Anti-Contactin-1 Antibodies. Journal of Neurology, Neurosurgery & Psychiatry, 88, 465-473. [Google Scholar] [CrossRef] [PubMed]
[19] Martinez-Martinez, L., Lleixà, M.C., Boera-Carnicero, G., Cortese, A., Devaux, J., Siles, A., et al. (2017) Anti-NF155 Chronic Inflammatory Demyelinating Polyradiculoneuropathy Strongly Associates to HLA-DRB15. Journal of Neuroinflammation, 14, Article No. 224. [Google Scholar] [CrossRef] [PubMed]
[20] Vallat, J., Mathis, S., Magy, L., Bounolleau, P., Skarzynski, M., Heitzmann, A., et al. (2018) Subacute Nodopathy with Conduction Blocks and Anti-Neurofascin 140/186 Antibodies: An Ultrastructural Study. Brain, 141, e56. [Google Scholar] [CrossRef] [PubMed]
[21] Martín-Aguilar, L., Lleixà, C. and Pascual-Goñi, E. (2022) Autoimmune Nodopathies, an Emerging Diagnostic Category. Current Opinion in Neurology, 35, 579-585. [Google Scholar] [CrossRef] [PubMed]
[22] Delmont, E., Manso, C., Querol, L., Cortese, A., Berardinelli, A., Lozza, A., et al. (2017) Autoantibodies to Nodal Isoforms of Neurofascin in Chronic Inflammatory Demyelinating Polyneuropathy. Brain, 140, 1851-1858. [Google Scholar] [CrossRef] [PubMed]
[23] Hu, W., Xin, Y., He, Z. and Zhao, Y. (2018) Association of Neurofascin IgG4 and Atypical Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review and Meta-Analysis. Brain and Behavior, 8, e01115. [Google Scholar] [CrossRef] [PubMed]
[24] Painous, C., López-Pérez, M.Á., Illa, I. and Querol, L. (2018) Head and Voice Tremor Improving with Immunotherapy in an Anti-NF155 Positive CIDP Patient. Annals of Clinical and Translational Neurology, 5, 499-501. [Google Scholar] [CrossRef] [PubMed]
[25] Briani, C., Salvalaggio, A., Ruiz, M., Cacciavillani, M., Rinaldi, F., Callegari, I., et al. (2019) Tongue Tremor in Neurofascin-155 IgG4 Seropositive Chronic Inflammatory Polyradiculoneuropathy. Journal of Neuroimmunology, 330, 178-180. [Google Scholar] [CrossRef] [PubMed]
[26] Vural, A., Doppler, K. and Meinl, E. (2018) Autoantibodies against the Node of Ranvier in Seropositive Chronic Inflammatory Demyelinating Polyneuropathy: Diagnostic, Pathogenic, and Therapeutic Relevance. Frontiers in Immunology, 9, Article 1029. [Google Scholar] [CrossRef] [PubMed]
[27] Shelly, S., Klein, C.J., Dyck, P.J.B., Paul, P., Mauermann, M.L., Berini, S.E., et al. (2021) Neurofascin-155 Immunoglobulin Subtypes. Neurology, 97, e2392-e2403. [Google Scholar] [CrossRef] [PubMed]
[28] Devaux, J.J., Miura, Y., Fukami, Y., Inoue, T., Manso, C., Belghazi, M., et al. (2016) Neurofascin-155 IgG4 in Chronic Inflammatory Demyelinating Polyneuropathy. Neurology, 86, 800-807. [Google Scholar] [CrossRef] [PubMed]
[29] Hou, X., Liang, Y., Cui, P. and Hao, J. (2021) The Clinical Features of Combined Central and Peripheral Demyelination and Antibodies against the Node of Ranvier. Multiple Sclerosis Journal, 28, 453-462. [Google Scholar] [CrossRef] [PubMed]
[30] Kawamura, N., Yamasaki, R., Yonekawa, T., Matsushita, T., Kusunoki, S., Nagayama, S., et al. (2013) Anti-Neurofascin Antibody in Patients with Combined Central and Peripheral Demyelination. Neurology, 81, 714-722. [Google Scholar] [CrossRef] [PubMed]
[31] Klehmet, J., Staudt, M., Diederich, J., Siebert, E., Meinl, E., Harms, L., et al. (2017) Neurofascin (NF)155-and NF186-Specific T Cell Response in a Patient Developing a Central Pontocerebellar Demyelination after 10 Years of CIDP. Frontiers in Neurology, 8, Article 724. [Google Scholar] [CrossRef] [PubMed]
[32] Wang, W., Liu, C., Li, W., Zhang, D., Shan, Y., Zheng, J., et al. (2022) Clinical and Diagnostic Features of Anti-Neurofascin-155 Antibody-Positive Neuropathy in Han Chinese. Annals of Clinical and Translational Neurology, 9, 695-706. [Google Scholar] [CrossRef] [PubMed]
[33] Ogata, H., Zhang, X., Inamizu, S., Yamashita, K., Yamasaki, R., Matsushita, T., et al. (2020) Optic, Trigeminal, and Facial Neuropathy Related to Anti-Neurofascin 155 Antibody. Annals of Clinical and Translational Neurology, 7, 2297-2309. [Google Scholar] [CrossRef] [PubMed]
[34] Kouton, L., Boucraut, J., Devaux, J., Rajabally, Y.A., Adams, D., Antoine, J.C., et al. (2020) Electrophysiological Features of Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with IgG4 Antibodies Targeting Neurofascin 155 or Contactin 1 Glycoproteins. Clinical Neurophysiology, 131, 921-927. [Google Scholar] [CrossRef] [PubMed]
[35] Miura, Y., Devaux, J.J., Fukami, Y., Manso, C., Belghazi, M., Wong, A.H.Y., et al. (2015) Contactin 1 IgG4 Associates to Chronic Inflammatory Demyelinating Polyneuropathy with Sensory Ataxia. Brain, 138, 1484-1491. [Google Scholar] [CrossRef] [PubMed]
[36] Delmont, E., Brodovitch, A., Kouton, L., Allou, T., Beltran, S., Brisset, M., et al. (2020) Antibodies against the Node of Ranvier: A Real-Life Evaluation of Incidence, Clinical Features and Response to Treatment Based on a Prospective Analysis of 1500 Sera. Journal of Neurology, 267, 3664-3672. [Google Scholar] [CrossRef] [PubMed]
[37] Appeltshauser, L., Weishaupt, A., Sommer, C. and Doppler, K. (2017) Complement Deposition Induced by Binding of Anti-Contactin-1 Auto-Antibodies Is Modified by Immunoglobulins. Experimental Neurology, 287, 84-90. [Google Scholar] [CrossRef] [PubMed]
[38] Doppler, K., Appeltshauser, L., Wilhelmi, K., Villmann, C., Dib-Hajj, S.D., Waxman, S.G., et al. (2015) Destruction of Paranodal Architecture in Inflammatory Neuropathy with Anti-Contactin-1 Autoantibodies. Journal of Neurology, Neurosurgery & Psychiatry, 86, 720-728. [Google Scholar] [CrossRef] [PubMed]
[39] Tang, Y., Liu, J., Gao, F., Hao, H., Jia, Z., Zhang, W., et al. (2023) CIDP/Autoimmune Nodopathies with Nephropathy: A Case Series Study. Annals of Clinical and Translational Neurology, 10, 706-718. [Google Scholar] [CrossRef] [PubMed]
[40] Doppler, K., Appeltshauser, L., Villmann, C., Martin, C., Peles, E., Krämer, H.H., et al. (2016) Auto-Antibodies to Contactin-Associated Protein 1 (CASPR) in Two Patients with Painful Inflammatory Neuropathy. Brain, 139, 2617-2630. [Google Scholar] [CrossRef] [PubMed]
[41] Li, C., Zheng, H., Yuan, C., Li, Y., Hu, Y. and Jiang, H. (2022) Two CIDP Variants Patients with Anti-Caspr1 Antibodies in South China. Frontiers in Immunology, 13, Article 844036. [Google Scholar] [CrossRef] [PubMed]
[42] Liu, B., Zhou, L., Sun, C., Wang, L., Zheng, Y., Hu, B., et al. (2023) Clinical Profile of Autoimmune Nodopathy with Anti-Neurofascin 186 Antibody. Annals of Clinical and Translational Neurology, 10, 944-952. [Google Scholar] [CrossRef] [PubMed]
[43] Querol, L., Rojas-García, R., Diaz-Manera, J., Barcena, J., Pardo, J., Ortega-Moreno, A., et al. (2015) Rituximab in Treatment-Resistant CIDP with Antibodies against Paranodal Proteins. Neurology Neuroimmunology & Neuroinflammation, 2, e149. [Google Scholar] [CrossRef] [PubMed]
[44] Martín-Aguilar, L., Lleixà, C., Pascual-Goñi, E., et al. (2022) Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Neurology Neuroimmunology & Neuroinflammation, 9, e1129. [Google Scholar] [CrossRef] 
[45] Bresciani, L., Salvalaggio, A., Vegezzi, E., Visentin, A., Fortuna, A., Anglani, M., et al. (2023) Caspr1 Antibodies Autoimmune Paranodopathy with Severe Tetraparesis: Potential Relevance of Antibody Titers in Monitoring Treatment Response. Journal of the Peripheral Nervous System, 28, 522-527. [Google Scholar] [CrossRef] [PubMed]
[46] Mehndiratta, M.M., Hughes, R.A. and Pritchard, J. (2015) Plasma Exchange for Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Cochrane Database of Systematic Reviews, No. 8, Article No. CD003906. [Google Scholar] [CrossRef] [PubMed]
[47] Bunschoten, C., Jacobs, B.C., Van den Bergh, P.Y.K., Cornblath, D.R. and van Doorn, P.A. (2019) Progress in Diagnosis and Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy. The Lancet Neurology, 18, 784-794. [Google Scholar] [CrossRef] [PubMed]
[48] Yang, M., Xu, L., Ji, S., Gao, H., Zhang, Q. and Bu, B. (2022) Tacrolimus Combined with Corticosteroids Improved the Outcome of CIDP Patients with Autoantibodies against Paranodal Proteins. Neuropsychiatric Disease and Treatment, 18, 1207-1217. [Google Scholar] [CrossRef] [PubMed]

为你推荐