Significance of screening for Fabry disease among male dialysis patients

  title={Significance of screening for Fabry disease among male dialysis patients},
  author={Mayuri Ichinose and M. Nakayama and Toya Ohashi and Yasunori Utsunomiya and Masahisa Kobayashi and Yoshikatsu Eto},
  journal={Clinical and Experimental Nephrology},
Fabry disease is an X-linked disorder resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A(α-Gal A). Renal insufficiency is a very important manifestation and affects the prognosis of patients. Recently, a renal variant type that is characterized by low plasma α-Gal A activity and a milder phenotype, but which progresses to end-stage renal failure, has been reported. In this study, we clarified the incidence of this atypical variant of Fabry disease in hemodialysis patients… CONTINUE READING


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