Autonomic nervous system activity in patients with Fabry disease英文文献资料.docVIP

Open Journal of Internal Medicine, 2012, 2, 116-122 OJIM /10.4236/ojim.2012.22021 Published Online June 2012 (http://www.SciRP.org/journal/ojim/) Autonomic nervous system activity in patients with Fabry disease* Eric Alamartine , Aurore Sury , Frédéric Roche , Vincent Pichot , Jean-Claude Barthelemy 1# 1 2 2 2 1 2 Department of Nephrology, Saint-Etienne University Hospital, Saint-Etienne, France Department of Physiology, Saint-Etienne University Hospital, Saint-Etienne, France Email: eric.alamartine@univ-st-etienne.fr # Received 1 November 2011; revised 10 February 2012; accepted 6 March 2012 ABSTRACT golipids, in particular globotriaosylceramide (Gb3), pro- gressively accumulate within the lysosomes of a large variety of cell types. Affected cells include vascular en- dothelial cells, neural cells, renal cells and cardiomyo- cytes. A cascade of overlapping pathologic events leads to multisystemic disease manifestations with small fiber neuropathy-related symptoms (described later), angi- okeratomata and eye abnormalities (e.g. cornea verticil- lata) often presenting in childhood [1]. Renal histological changes, including podocyte injury, and/or (micro) al- buminuria may develop at young age [2-4]. Proteinuria is often first detected in the 2nd to 3rd decade of life and is strongly associated with decline in glomerular filtration rate (GFR) [5,6]. Left ventricular hypertrophy (LVH) is also a prominent feature in adults, particularly in males [7], and its extent correlates with the renal complications [7,8]. Other life-threatening complications include ar- rhythmias and early stroke [1,9]. Although disease pres- entation in heterozygous females is often more attenu- ated, a major proportion of affected women will