The Changing Landscape of Fabry Disease

Clin J Am Soc Nephrol. 2020 Apr 7;15(4):569-576. doi: 10.2215/CJN.09480819. Epub 2020 Mar 4.
No abstract available

Keywords: Fabry disease; Fabry’s disease; adult; agalsidase α; agalsidase β; alphagalactosidase; angiokeratoma; cardiac myocytes; cardiovascular disease; cause of death; enzyme replacement therapy; female; follow-up studies; genetic renal disease; humans; kidney biopsy; kidney transplantation; longevity; male; podocyte; progression of renal failure; renal dialysis; renal function decline; vascular disease; vascular endothelium.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Early Diagnosis
  • Enzyme Replacement Therapy
  • Fabry Disease* / diagnosis
  • Fabry Disease* / epidemiology
  • Fabry Disease* / genetics
  • Fabry Disease* / therapy
  • Genetic Predisposition to Disease
  • Humans
  • Isoenzymes / therapeutic use
  • Kidney Diseases* / diagnosis
  • Kidney Diseases* / epidemiology
  • Kidney Diseases* / genetics
  • Kidney Diseases* / therapy
  • Mutation
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Recombinant Proteins / therapeutic use
  • Risk Assessment
  • Risk Factors
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / therapeutic use

Substances

  • Isoenzymes
  • Recombinant Proteins
  • agalsidase alfa
  • GLA protein, human
  • alpha-Galactosidase
  • agalsidase beta