A Case of Fabry Disease, in Which Renal Symptoms Served as a Diagnostic Prompt

Abstract

A 37-year-old male was diagnosed with Fabry disease after renal biopsy. At first, his symptoms were proteinuria and mild kidney dysfunction, but several instances of organ damage, including left ventricular hypertrophy and lacunar brain infarction, opacified lens, and angiokeratoma, were found out after diagnosis. After treatment with alfa-galactosidase A the progression of renal dysfunction was restrained. Because enzyme replacement therapy in Fabry disease might be effective for stabilizing organ functions, it is important to start an early treatment. In the case of male patients who present mild proteinuria, we should pay attention to multiple manifestations.