Improvement of sympathetic skin responses after enzyme replacement therapy in Fabry disease

摘要

To report the effect of 24 months of enzyme replacement therapy (ERT) on the sympathetic skin responses (SSR) of patients with Fabry disease. Methods: Seven male patients from four families (mean age, 32 years; range, 24-46 years) were included in an open-label protocol using agalsidase alfa (0.2 mg/kg every 2 weeks). Five patients completed 24 months of ERT, and two completed 18 months. Two main measurements were made at baseline and 1 and 2 years after the start of ERT: (1) a standard neurological examination, with detailed evaluation of the sensory perception of light touch, pinprick, cold, hot and vibratory stimuli; and (2) measurement of SSR amplitudes.