Kistler et al. performed a urine proteomic analysis based on capillary electrophoresis coupled to mass spectrometry.  They identified a urinary biomarker model that seems to be of diagnostic use for Fabry disease in female patients. This pattern exhibited 88.2% sensitivity and 97.8% specificity when tested in an independent validation cohort. Biomarkers correlating with measures of disease severity and responding to enzyme replacement therapy (ERT) were reported. Such a biomarker model has the potential to be used for monitoring response to ERT. [Kistler et al. PLoS One. 2011;6(6)]

Posted by Yannis Trakadis, MD MSc