PERIPHERAL-NERVE CONDUCTION IN FABRY DISEASE
PERIPHERAL-NERVE CONDUCTION IN FABRY DISEASE
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DOI：
10.1002/ana.410070406
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发表时间：
1980-01-01
影响因子：
11.2
通讯作者：
SWICK, HM
中科院分区：
文献类型：
--
作者：
SHETH, KJ;SWICK, HM
对来自三个患有法布里病的不同家族的 34 名年龄在 3 岁至 54 岁之间的成员进行了周围神经传导研究。研究组中有三分之一（34 人中的 11 人）的神经传导速度延长。在 9 名血浆 α-半乳糖苷酶水平正常的对照家庭成员中，8 名的速度正常。一名 6 岁女孩，血浆和白细胞 α-半乳糖苷酶水平正常，角膜沉积物缺失，神经传导速度略低于正常。 3 名专性女性法布里病携带者中的 1 名和 10 名疑似法布里病携带者中的 1 名传导速度延长，但远端潜伏期正常。另一方面，12 名患有法布里病的男性中有 8 名表现出神经传导速度缓慢，而 8 名男性中有 4 名远端潜伏期延长。通常，所研究的两根神经中只有一根显示出异常。这些异常与患者年龄无关。异常情况存在家族间差异。
Peripheral nerve conduction was studied in 34 members, aged 3 to 54 years, from three separate kindreds with Fabry disease. Nerve conduction velocity was prolonged in one‐third (11 of 34) of the study group. Of the 9 control family members with normal plasma α‐galactosidase levels, 8 had normal velocity. A 6‐year‐old girl with normal plasma and leukocyte α‐galactosidase levels and absent corneal deposits had slightly lower than normal nerve conduction velocity. One of the 3 obligate female carriers and 1 of 10 suspected carriers of Fabry disease had prolonged conduction velocity but normal distal latency. On the other hand, 8 of 12 males affected with Fabry disease demonstrated slow nerve conduction velocity while 4 of the 8 had prolonged distal latency. Frequently, only one of the two nerves studied showed abnormalities. These abnormalities were not related to patient age. Interfamilial variations in the abnormalities were present.