Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype.BackgroundFabry disease is an X-linked recessive lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. Renal failure is a major debilitating complication in classically affected males. To determine if this disorder is underdiagnosed in patients with end-stage renal disease (ESRD), the frequency of...