The Management of Fabry Nephropathy

Abstract

A case of an adult female with Fabry disease is described with discussion based on the following key questions: 1. What is the natural history of Fabry nephropathy? 2. What are the indications to perform kidney biopsy in Fabry disease? 3. How to perform the workout of the patient in recognition of systemic organ damage? 4. Is the missed recognition of Fabry disease frequent in dialysis patients? 5. When and which patients are eligible to start enzyme replacement therapy? 6. Is enzyme replacement therapy effective in Fabry nephropathy? 7. What is the outcome of the patient who underwent a kidney transplantation? 8. Is the supportive therapy important in Fabry disease nephropathy? 9. What are the future therapeutic perspectives?