Fabry Disease: An Uncommon Cause of Renal Failure

Abstract

Fabry disease is an X-linked disorder caused by glycosphingolipid accumulation due to a-galactosidase (GLA) deficiency. Data are limited in patients with Latin American ancestry. We present the case and genetics of a latediagnosed Fabry disease patient who presented with endstage renal disease. ANA ¼ antinuclear antibody; BUN ¼ blood urea nitrogen; CRP ¼ C-reactive protein; ESR ¼ erythrocyte sedimentation rate; HIV ¼ human immunodeficiency virus; MCV ¼ mean corpuscle volume; PTH ¼ parathyroid hormone; RBC ¼ red blood cells; WBC ¼ white blood cells.