伴小纤维受损周围神经病34例的临床、电生理及皮肤活检研究

Clinical, electrophysiological and skin biopsy studies of peripheral neuropathy with small fibers involvement： a report of 34 cases

目的 探讨伴小纤维受损周围神经病表皮内神经纤维密度（IENFD）与临床、神经电生理的关系,评价13项小纤维神经病和症状问卷（SFN-SIQ）、下肢神经症状评分（NSS[LL]）对小纤维神经病（SFN）的诊断价值.方法 选取2012年12月20日至2014年7月14日于解放军总医院神经内科诊治的34例伴小纤维受损的周围神经病（PN）患者,进行SFN-SIQ、NSS[LL]、下肢神经功能评分（NDS[LL]）,并行神经电生理检查及皮肤活检.采用相应统计学方法分析IENFD与各量表评分及电生理参数的关系,评价SFN-SIQ、NSS[LL]对小纤维病变的诊断价值.结果 根据临床特点,分为2组,SFN组16例,混合性PN组18例.根据IENFD国际标准参考值,13例可诊断伴小纤维受损的周围神经病;IENFD与SFN-SIQ中度相关（r=0.437,P=0.012）,与NSS[LL]边缘相关（r=0.334,P=0.062）,且SFN-SIQ、NSS[LL]对小纤维病变的诊断价值中等,评分为6分时分别对应的正确诊断指数最大;混合性周围神经病组NDS[LL]评分明显高于小纤维病变组（t=-5.605,P＜0.001）;IENFD异常组NSS[LL]评分明显高于正常组（t=-2.047,P=0.049）;IENFD异常组与正常组电生理参数差异无统计学意义.结论 建立中国人群IENFD正常参考值对于小纤维神经病的诊断至关重要;SFN-SIQ、NSS[LL]有望成为小纤维神经病初筛、病情随访、疗效观察的有效手段.

Objective To explore the relationship between clinical features,electrophysiology and intraepidermal nerve fiber density （IENFD） in peripheral neuropathy with small fibers involvement and determine the diagnostic value of 13-item small-fiber neuropathy and symptoms inventory questionnaire （SFN-SIQ） and neuropathy symptom score [lower limb] （NSS [LL]） in small fiber neuropathy （SFN）.Methods A total of 34 consecutive patients with peripheral neuropathy with symptoms of small fibers were enrolled and divided into two groups of small fiber injury and small and large fiber injury.SFN-SIQ,NSS [LL] and neuropathy disability score [lower limb] （NDS [LL]） were administered.Nerve conduction studies and skin biopsy were conducted in unilateral lower limb.The relationship between IENFD and these scales was assessed by partial correlation.Receiver operating characteristic analysis was applied for evaluating the diagnostic value of SFN-SIQ and NSS [LL] in small fiber injury.Independent sample t test was used to compare various parameters of two groups.And similar statistical method was used for IENFD abnormal and normal groups to detect the clinicoelectrophysiological differences.Results According to the international normative reference of IENFD,13 patients could be diagnosed with peripheral neuropathy with small fibers involvement.IENFD was moderately correlated with SFN-SIQ （r =0.437,P =0.012） and marginally correlated with NSS [LL] （r =0.334,P =0.062）.The diagnostic value of SFN-SIQ and NSS [LL] was moderate for small fiber injury （Az =0.753,P =0.012 for SFN-SIQ,Az =0.712,P =0.040 for NSS [LL]） and the best diagnostic indicator of each scale was 6.The value of NDS [LL] was apparently elevated in small and large fiber injury group versus small fiber injury group （t =-5.605,P ＜0.001）.The IENFD abnormal group had a higher NSS [LL] value than that of the IENFD normal group （t =-2.047,P =0.049）.No differences of electrophysiological parameters existed between IENFID abnormal and normal groups.Conclusion Chinese normative reference of IENFD should be formulated for the diagnosis of small fiber neuropathy.SFN-SIQ and NSS [LL] may screen for small fiber neuropathy and both are convenient during patient follow-ups.Large sample studies are warranted to further evaluate the clinical values of SFN-SIQ and NSS [LL].