Kovvuru S, Cardenas Y C, Huttner A, Nowak R J, Roy B
Department of Neurology, Yale School of Medicine, New Haven, CT, USA.
Department of Neurology, University of Arkansas, Little Rock, AR, USA.
Eur J Neurol. 2020 Jul;27(7):1310-1318. doi: 10.1111/ene.14180. Epub 2020 Mar 20.
Autoantibodies are increasingly being used as a diagnostic biomarker of chronic inflammatory neuropathies. However, their role and associated clinical syndrome are not well defined.
This retrospective chart review evaluated the clinical presentation, diagnostic workup and therapeutic responses in fibroblast growth factor receptor 3 (FGFR3) antibody-associated neuropathy.
A total of 27 patients [14 men, aged 29-87 (65 ± 14) years] with positive FGFR3 antibody were included. Distal lower-extremity paresthesia (66%), unsteady gait (26%) and foot drop (11%) were common presenting symptoms. Symptom onset was acute in four (15%) cases. Distal lower-extremity weakness (mild in eight and severe in three patients) was the most frequent motor finding. Decreased distal sensation to pinprick (59%) and loss of vibration sensation (37%) were observed. Titer of FGFR3 ranged between 3100 and 30 000 (normal < 3000) with a mean of 10 688 ± 7284. Apart from the occasional association of other neuropathy-related autoantibodies, comprehensive neuropathy workup was otherwise unrevealing. Six patients had other autoimmune disease and seven patients had a history of cancer. Electromyography reflected sensorimotor neuropathy with mixed axonal and demyelinating features in 11 cases. Pure sensory neuropathy was noted in three patients. Demyelination was found in five of six nerve biopsies. Intravenous immunoglobulin response was observed in 8/10 treated patients.
The FGFR3 antibody appears not to be restricted to sensory neuropathy only. Its role in the pathogenicity of chronic inflammatory neuropathies is not yet well established and, although there may be a role for immunotherapy, larger studies are warranted.
自身抗体越来越多地被用作慢性炎症性神经病的诊断生物标志物。然而，它们的作用及相关临床综合征尚未明确界定。
本回顾性病历审查评估了成纤维细胞生长因子受体3（FGFR3）抗体相关神经病的临床表现、诊断检查及治疗反应。
共纳入27例FGFR3抗体阳性患者[14例男性，年龄29 - 87（65±14）岁]。下肢远端感觉异常（66%）、步态不稳（26%）和足下垂（11%）是常见的首发症状。4例（15%）患者症状急性起病。下肢远端无力（8例轻度，3例重度）是最常见的运动表现。观察到针刺觉减退（59%）和振动觉丧失（37%）。FGFR3滴度在3100至30000之间（正常<3000），平均为10688±7284。除偶尔与其他神经病相关自身抗体有关外，全面的神经病检查未发现其他异常。6例患者患有其他自身免疫性疾病，7例患者有癌症病史。11例患者的肌电图显示感觉运动性神经病，具有混合性轴索性和脱髓鞘性特征。3例患者表现为纯感觉性神经病。6例神经活检中有5例发现脱髓鞘改变。10例接受治疗的患者中有8例观察到静脉注射免疫球蛋白治疗有效。
FGFR3抗体似乎不仅限于感觉性神经病。其在慢性炎症性神经病发病机制中的作用尚未完全明确，尽管免疫治疗可能有一定作用，但仍需更大规模的研究。
