法布里病
医学
酶替代疗法
神经纤维
肾功能
神经病理性疼痛
内科学
周围神经病变
疾病
泌尿科
心脏病学
病理
内分泌学
麻醉
糖尿病
解剖
作者
Nurcan Üçeyler,Lan He,Dorothee Schönfeld,Ann-Kathrin Káhn,Karlheinz Reiners,Max J. Hilz,Frank Breunig,Claudia Sommer
标识
DOI:10.1111/j.1529-8027.2011.00365.x
摘要
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.
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