LAUSR

Fabry disease is an X-linked lysosomal storage disease characterized by alpha-galactosidase A (α-Gal A) enzyme deficiency. It can present with a variety of clinical manifestations ranging from complaints of extremity numbness and tingling to end-stage renal disease, cardiovascular disease, or stroke. Although it causes proteinuria and chronic kidney disease, it is often not included in the differential diagnosis of a young adult who presents with proteinuria. We describe the histories of two brothers who received a diagnosis of Fabry disease after one underwent a kidney biopsy. The diagnosis had profound implications for both individuals and their family. These cases and the accompanying review of kidney manifestations of Fabry disease demonstrate why the differential diagnosis of a young male with proteinuria and family history of kidney disease must include Fabry disease and why nephrologists should consider α-Gal A enzyme deficiency screening in the evaluation of male patients. Additionally, they highlight the importance of obtaining a kidney biopsy when the etiology of kidney disease is unknown.
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