Expert opinion on the conceptual, clinical and therapeutic aspects of Fabry nephropathy: A nephrologists’ perspective

Progressive nephropathy (Fabry nephropathy) is one of the main features of Fabry disease observed in both the early-onset and later-onset types and in as many as 50% of males and 20% of females, which largely contributes to the overall disease burden. However, suspecting and diagnosing Fabry nephropathy, a paramount factor in changing the disease’s natural history and progression and improving patients’ quality of life, may be challenging for the clinical nephrologist. There is also considerable challenge in the therapeutic decision-making process due to limited availability of evidence-based solid criteria on therapeutic and prognostic algorithms. Therefore, this practical guide based on expert opinion aimed to address the current knowledge on conceptual, clinical, and therapeutic aspects of Fabry nephropathy from a nephrologist’s perspective, and to provide a practical guidance document to assist clinicians in the best practice in the management and monitoring of the disease.