Department of Neurology, University of Würzburg, Würzburg, Germany.
J Peripher Nerv Syst. 2011 Dec;16(4):304-14. doi: 10.1111/j.1529-8027.2011.00365.x.
Fabry disease (FD) is an X-linked lysosomal storage disorder which may lead to impaired peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain. Characteristics of the neuropathy associated with FD and the covariates for its development and temporal course have not been described in a large cohort. We studied small fiber function and morphology in 120 Fabry patients at baseline and in subgroups of these until 4-year follow-up. Baseline neurological (89/120) and electrophysiological (106/120) examination was mostly normal. Quantitative sensory testing revealed impaired cold detection thresholds in 84% of men and 39% of women. Lower leg intraepidermal nerve fiber density (IENFD) was reduced to 46% in Fabry patients compared to controls and to 12.5% in men with impaired renal function. Patients with abnormal IENFD more often had pain. Group means for IENFD did not improve under enzyme replacement therapy (ERT), but IENFD in the back increased under ERT in 4/15 patients with good renal function and clinical improvement. Cutaneous cytokine gene expression did not differ from controls. We conclude that ERT may improve proximal skin innervation in patients with good renal function, but does not protect small fiber function in men with impaired renal function.
法布瑞氏病（FD）是一种 X 连锁溶酶体贮积病，可能导致周围神经功能受损，主要影响小神经纤维，并导致神经病理性疼痛。尚未在大型队列中描述与 FD 相关的神经病变的特征及其发生和时间进程的协变量。我们在基线时研究了 120 名 FD 患者的小纤维功能和形态，并在这些患者的亚组中进行了 4 年的随访。基线时神经学（89/120）和电生理学（106/120）检查大多正常。定量感觉测试显示，84%的男性和 39%的女性冷觉阈值受损。与对照组相比，FD 患者的小腿表皮内神经纤维密度（IENFD）降低至 46%，肾功能受损的男性降低至 12.5%。IENFD 异常的患者更常出现疼痛。在接受酶替代治疗（ERT）后，IENFD 的组平均值并未改善，但在肾功能良好且临床改善的 15 名患者中，有 4 名患者的背部 IENFD 在 ERT 下增加。皮肤细胞因子基因表达与对照组无差异。我们得出结论，ERT 可能改善肾功能良好的患者近端皮肤神经支配，但不能保护肾功能受损的男性小纤维功能。
