Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.
Muscle Nerve. 2010 Mar;41(3):409-12. doi: 10.1002/mus.21606.
Recent studies suggest that heterozygous female Fabry disease (FD) patients develop peripheral neuropathy. We used skin biopsy to define somatic and autonomic peripheral nerve characteristics in 21 females with FD who were mainly asymptomatic and had normal renal function. Somatic epidermal and dermal autonomic nerve fiber reductions were found, prevalently in the leg, and no differences were found between symptomatic and asymptomatic individuals. Our findings suggest that females with FD, although asymptomatic, may have somatic and autonomic small fiber neuropathy.
最近的研究表明，杂合子女性法布里病（FD）患者会出现周围神经病变。我们使用皮肤活检来定义 21 名主要无症状且肾功能正常的 FD 女性的躯体和自主周围神经特征。发现躯体表皮和真皮自主神经纤维减少，主要发生在腿部，且症状和无症状个体之间无差异。我们的研究结果表明，尽管无症状，FD 女性可能患有躯体和自主小纤维神经病。
