Background: Fabry disease is an inherited, multisystemic and progressive lysosomal storage disorder. The first symptoms of Fabry neuropathy reflect progressive loss of function of both peripheral somatic and autonomic...Background: Fabry disease is an inherited, multisystemic and progressive lysosomal storage disorder. The first symptoms of Fabry neuropathy reflect progressive loss of function of both peripheral somatic and autonomic nerve cells. We aimed to evaluate autonomic nervous system (ANS) activity in a cohort of patients with Fabry disease. Methods: ANS activity was evaluated by determining heart rate variability, spontaneous baroreflex sensitivity and ambulatory blood pressure in 9 patients with Fabry disease. Possible correlations between ANS activity and clinical phenotype were investigated. Results: Indices of global activity were frequently high, while ANS balance was disturbed only in a few patients. Sympathetic nervous system parameters were within normal ranges, but indices of parasympathetic parameters were highly variable. Baroreflex sensitivity was significantly correlated with glomerular filtration rate. Conclusion: Distribution of ASN activity indices is wide in patients with Fabry disease. Autonomic imbalance has been associated with non-Fabry chronic kidney disease and cardiovascular risk. In Fabry disease, monitoring of ANS activity may contribute to comprehensive disease staging, and may be of value in identifying patients at high risk of developing renal and cardiac events.展开更多
文摘Background: Fabry disease is an inherited, multisystemic and progressive lysosomal storage disorder. The first symptoms of Fabry neuropathy reflect progressive loss of function of both peripheral somatic and autonomic nerve cells. We aimed to evaluate autonomic nervous system (ANS) activity in a cohort of patients with Fabry disease. Methods: ANS activity was evaluated by determining heart rate variability, spontaneous baroreflex sensitivity and ambulatory blood pressure in 9 patients with Fabry disease. Possible correlations between ANS activity and clinical phenotype were investigated. Results: Indices of global activity were frequently high, while ANS balance was disturbed only in a few patients. Sympathetic nervous system parameters were within normal ranges, but indices of parasympathetic parameters were highly variable. Baroreflex sensitivity was significantly correlated with glomerular filtration rate. Conclusion: Distribution of ASN activity indices is wide in patients with Fabry disease. Autonomic imbalance has been associated with non-Fabry chronic kidney disease and cardiovascular risk. In Fabry disease, monitoring of ANS activity may contribute to comprehensive disease staging, and may be of value in identifying patients at high risk of developing renal and cardiac events.
