[SHORT REPORTS]Anhidrosis in a Symptomatic Female Carrier of Fabry's Disease:Analysis with Microneurography of Skin Sympathetic Nerve Activity

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• Fabry's disease, an X-linked disorder arising from an α-galactosidase deficiency, manifests a variety of autonomic nerve involvement including anhidrosis. In this study, we monitored the skin sympathetic nerve activity (SSNA) in a symptomatic carrier of this disease in oeder to investigate the underling pathophysiology of anhidrosis. Both the resting activity and responsiveness of SSNA to arousal stimuli remained fairly well preserved though they tended to be slightly lower than the healthy control subjects. Sweat expulsious, on the other hand, were completely absent despite the presence of a well preserved sympathetic skin response (SSR) corresponding to the preceding SSNA burst.These results suggest that anhidrosis in cases of Fabry's disease is due to a dysfunction in the sweat glands rather than any involvement of the SSNA.

• 名古屋大学の論文

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