Department of Neurology, University of Missouri School of Medicine, Columbia, MO, 65212, USA.
BMC Neurol. 2021 Feb 15;21(1):74. doi: 10.1186/s12883-021-02090-2.
Despite its initial association with sensory neuropathies, anti-fibroblast growth factor receptor 3 (FGFR3) antibodies have been since reported with a broad range of neuropathies and clinical features. The aim of the study is to report the clinical and electro diagnostic findings in a cohort of patients with sensory or sensorimotor polyneuropathy and anti-FGFR3 antibodies.
We performed a retrospective chart review to assess the clinical characteristics of patients with sensory or sensorimotor neuropathy related to FGFR3 antibodies. Descriptive statistics were reported using frequencies and percentages for categorical variables and median and interquartile range (IQR) for continuous variables.
This study included 14 patients (9 women) with a median age of 51.9 years (IQR 48-57). The most common presenting symptoms were painful paresthesia (100%), gait instability (42.9%), constitutional symptoms (42.9%), and autonomic symptoms (28.6%). Onset of symptoms was chronic (≥12 weeks) in eight patients (57.1%). Examination showed a distal loss of sensation to pin prick (100%), as well as impaired vibration sensation (78.6%) and proprioception (35.7%), in the distal extremities. We also observed mild weakness in the distal lower-extremities (42.9%). Three patients (21.4%) had trigeminal neuralgia, three patients (21.4%) had co-existing autoimmune disease, and one patient (7.1%) had a history of renal cell carcinoma. The mean titer of FGFR3 antibody was 14,285.71 (IQR 5000-16,750). All 14 patients produced normal results in the neuropathy workup. Nerve conduction study and electromyography showed sensory axonal neuropathy in four patients (28.6%), sensorimotor axonal neuropathy in seven patients (50%), and a normal result in three patients (21.4%). For those with a normal NCS/EMG, a skin biopsy showed a non-length-dependent small fiber neuropathy.
Neuropathy related to FGFR3 antibodies can potentially involve small and large fibers, sensory and motor fibers, and even the trigeminal nerve, which contributes to a highly variable clinical presentation.
尽管最初与感觉性神经病变有关，但抗成纤维细胞生长因子受体 3（FGFR3）抗体此后已被报道与广泛的神经病变和临床表现相关。本研究旨在报告一组具有感觉或感觉运动性多发性神经病和抗 FGFR3 抗体的患者的临床和电诊断发现。
我们进行了回顾性图表审查，以评估与 FGFR3 抗体相关的感觉或感觉运动性神经病患者的临床特征。使用频率和百分比表示分类变量，使用中位数和四分位距（IQR）表示连续变量。
本研究包括 14 名女性患者（9 名女性），中位年龄为 51.9 岁（IQR 48-57）。最常见的表现症状为疼痛性感觉异常（100%）、步态不稳（42.9%）、全身症状（42.9%）和自主神经症状（28.6%）。8 名患者（57.1%）的症状起病为慢性（≥12 周）。检查显示远端针刺痛觉丧失（100%），以及远端四肢振动觉（78.6%）和本体感觉（35.7%）受损。我们还观察到远端下肢轻度无力（42.9%）。3 名患者（21.4%）患有三叉神经痛，3 名患者（21.4%）患有共存自身免疫性疾病，1 名患者（7.1%）有肾细胞癌病史。FGFR3 抗体的平均滴度为 14285.71（IQR 5000-16750）。14 名患者的神经病变检查均正常。神经传导研究和肌电图显示 4 名患者（28.6%）为感觉性轴索性神经病，7 名患者（50%）为感觉运动性轴索性神经病，3 名患者（21.4%）为正常结果。对于那些神经传导研究/肌电图正常的患者，皮肤活检显示非长度依赖性小纤维神经病。
与 FGFR3 抗体相关的神经病可能涉及小纤维和大纤维、感觉和运动纤维，甚至三叉神经，这导致了高度可变的临床表现。
