Treatment of Fabry Nephropathy: A Literature Review

Medicina (Kaunas). 2023 Aug 17;59(8):1478. doi: 10.3390/medicina59081478.


Fabry disease is an X-linked inherited lysosomal storage disorder with a deficiency of α-galactosidase A activity, which results in the intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in various organs. Fabry nephropathy is one of the major complications of Fabry disease, and kidney damage is often related to cardiovascular disease and mortality. The treatment of Fabry nephropathy thus helps prolong life expectancy. Two treatment options for Fabry nephropathy and cardiopathy are now commercially available: enzyme replacement therapy (agalsidase α agalsidase β, and a biosimilar of agalsidase β) and pharmacological chaperone therapy (migalastat). In this review, we summarize the efficacy of these treatment options for Fabry nephropathy with respect to renal function, proteinuria, and renal pathological findings. We also describe the importance of adjunctive therapy for Fabry nephropathy.

Keywords: Fabry nephropathy; chaperone therapy; enzyme replacement therapy; proteinuria; renal function.

Publication types

  • Review

MeSH terms

  • Cardiovascular Diseases*
  • Dental Care
  • Fabry Disease* / complications
  • Fabry Disease* / drug therapy
  • Humans
  • Kidney
  • Kidney Diseases*

Grants and funding

This research received no external funding.