ISSN:
1619-1560
Keywords:
Fabry's disease
;
symptomatic female carrier
;
anhidrosis
;
skin sympathetic nerve activity
;
sympathetic skin response
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Fabry's disease, X-linked α-galactosidase deficiency, features a variety of autonomic abnormalities including anhidrosis. In this study, we measured the skin sympathetic nerve activity (SSNA), skin potential and sweat rate in a symptomatic female carrier to investigate the underlying pathophysiology of anhidrosis. The basal activity and responsiveness of SSNA were both fairly well preserved, although slightly reduced compared with the control levels. However, sweating was completely absent, despite the normal skin potential change in response to SSNA bursts. These results suggest that anhidrosis in Fabry's disease is a result of sweat gland dysfunction as well as abnormal SSNA.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02291231
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