Involvement of peripheral nerve and muscle in Fabry's disease. Histologic, ultrastructural, and morphometric studies.
Involvement of peripheral nerve and muscle in Fabry's disease. Histologic, ultrastructural, and morphometric studies.
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法布里病涉及周围神经和肌肉。
DOI：
10.1001/archneur.1978.00500290037007
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发表时间：
1978
影响因子：
--
通讯作者：
D. Robertson
中科院分区：
文献类型：
--
作者：
A. Sima;D. Robertson
对法布里病患者腓肠神经和腓肠肌活检标本的光学显微镜和超微结构研究表明，血管壁的内皮和外皮细胞中存在脂质积累。此外，周围神经在神经周细胞中表现出脂质沉积，偶尔在无髓鞘和有髓轴突中沉积，很少在雪旺细胞细胞质中沉积。在肌肉活检标本中，在肌浆中发现了储存的脂质。定量组织学研究显示大的无髓神经纤维和细有髓神经纤维的损失。极度疼痛和出汗减少是这种疾病的特征，可能是由于这些纤维类别的损失造成的。周围神经病变可能继发于脂质的核周沉积，如先前文献中所述。
Light microscopic and ultrastructural studies of biopsy specimens from the sural nerve and the gastrocnemius muscle in a patient with Fabry's disease showed accumulation of lipids in endothelial and perithelial cells of the vessel walls. In addition, the peripheral nerve exhibited deposition of lipids in the perineurial cells, occasionally in unmyelinated and myelinated axons, and infrequently in Schwann cell cytoplasm. In the muscle biopsy specimen, stored lipid was found in the sarcoplasm. Quantitative histologic studies showed loss of large unmyelinated and thin myelinated nerve fibers. Excruciating pain and loss of sweating, characteristic of this disorder, may result from loss of these fiber categories. The peripheral neuropathy is probably secondary to perikaryal deposition of lipid as described previously in the literature.