Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?

摘要: Fabry disease is a rare, X-linked, lysosomal storage caused by mutations in the gene encoding enzyme alpha-galactosidase A. Complete or partial deficiency this leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids many cell types throughout body, including kidney. Progressive Gb3 podocytes, epithelial cells tubular distal tubule loop Henle contribute renal symptoms disease, which manifest as proteinuria reduced glomerular filtration rate leading chronic kidney progression end-stage disease. Early diagnosis timely initiation treatment an important facet management. Initiating with replacement therapy (ERT; agalsidase alfa, Replagal®, Shire; beta, Fabrazyme®, Genzyme) part comprehensive strategy prevent complications may be beneficial stabilizing function slowing its decline. ERT also more effective than initiating patients advanced Several strategies are required complement use treat myriad associated organ involvements. In particular, at risk cardiovascular events, such high blood pressure, cardiac arrhythmias stroke. This review discusses management involvement diagnosis, treatments, follow-up, explores recent advances biomarkers assist monitoring response treatment.