Hoeijmakers Jannkek G J, Bakkers Mayienne, Blom Eveline W, Drenth Joost P H, Merkies Ingemar S J, Faber Catharina G
Maastricht Universitair Medisch Centrum, Maastricht, the Netherlands.
Ned Tijdschr Geneeskd. 2012;156(7):A4224.
Small fibre neuropathy is a neuropathy of the small non-myelinated C-fibres and myelinated Aδ-fibres. Clinically, an isolated small fibre neuropathy is distinguished by sensory and autonomic symptoms, with practically no abnormalities on neurological examination other than possible distorted pain and temperature sensation. Specific diagnostic tests for small fibre neuropathy are skin biopsy, including a count of the intra-epidermal small nerve fibres that cross the basal membrane, and quantitative sensory and autonomic testing. Diabetes mellitus is the most frequent underlying cause of small fibre neuropathy. Other causes can be classified into the following categories: toxic (e.g. alcohol), metabolic, immune-mediated, infectious and hereditary. Recently, in a substantial proportion (29%) of a group of patients with idiopathic small fibre neuropathy, a SCN9A gene mutation was demonstrated, which leads to hyperexcitability of the dorsal root ganglion neurons. Treatment of small fibre neuropathy consists of symptomatic pain relief and, if possible, treatment of the underlying cause of the condition.
小纤维神经病变是一种累及细小无髓鞘C纤维和有髓鞘Aδ纤维的神经病变。临床上，孤立性小纤维神经病变以感觉和自主神经症状为特征，除了可能存在的痛觉和温度觉异常外，神经系统检查基本无异常。小纤维神经病变的特异性诊断检查包括皮肤活检，即对穿过基底膜的表皮内小神经纤维进行计数，以及定量感觉和自主神经检测。糖尿病是小纤维神经病变最常见的潜在病因。其他病因可分为以下几类：中毒性（如酒精）、代谢性、免疫介导性、感染性和遗传性。最近，在一组特发性小纤维神经病变患者中，相当一部分（29%）被证实存在SCN9A基因突变，该突变导致背根神经节神经元兴奋性增高。小纤维神经病变的治疗包括对症缓解疼痛，并尽可能治疗该疾病的潜在病因。
