Fabry Disease: Report of Two Cases with Uncommon Presentation.

Fabry disease (FD) is a rare, lysosomal storage disorder characterized by multiorgan accumulation of predominantly globotriaosylceramide (GL3) and its metabolite. Resulting renal, cardiac, and cerebrovascular complications are crucial causes of morbidity and mortality in FD. Enzyme replacement therapy (ERT) shows promising outcomes for these patients, provided that therapy is initiated early. Thus, precise and early diagnosis of the disease is a pivotal factor determining the corollary of the disease. We report two cases of young adult males who presented to the nephrology department with proteinuria. A kidney biopsy was performed in both cases, which was suggestive of FD. The final conclusive diagnosis of FD was provided by electron microscopy.