Fabry Disease Nephropathy: Compendium of “in vitro” and “in vivo” Renal Effects of Globotriaosylsphingosine

The small number of publications and the methodological heterogeneity do not allow a statistical analysis of them. Regarding the "in vivo" and "in vitro" renal effects of Lyso-Gb3 in FD: There is evidence of harmful effects on renal cells in vitro due to Lyso-Gb3 but this evidence is not sufficient to use Lyso-Gb3 (neither plasma nor urinary) as a biomarker for monitoring renal damage in FD patients. Plasma Lyso-Gb3 is a useful biomarker in (i) FD diagnosis and (ii) stratification of phenotype and severity of FD. In FD "classic" patients receiving enzyme replacement therapy (ERT), it is useful to determine plasma Lyso-Gb3 periodically because an inconsistent reduction during ERT may indicate the formation of neutralizing anti-agalsidase antibodies. .