Enzyme replacement therapy for fabry disease, an inherited nephropathy

R. J. Desnick, M. Banikazemi, M. Wasserstein

Research output: Contribution to journalReview article

35 Scopus citations

Abstract

Fabry disease, an X-linked lysosomal storage disease, results from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the progressive accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids. In classically affected males with this inherited nephropathy, early and marked GL-3 deposition in the podocytes leads to proteinuria in childhood or adolescence. With increasing age, GL-3 deposition in renal microvascular endothelial cells, and to a lesser extent in interstitial and mesangial cells, leads to renal insufficiency in the third to fifth decades of life. Recently identified "renal variants" who lack the classical disease manifestations of acroparesthesias, angiokeratoma, hypohidrosis, and characteristic corneal/lenticular opacities also develop renal failure. In contrast, "cardiac variants" who also lack the classical phenotype, develop proteinuria in adulthood, but survive a normal lifespan without developing renal failure. Here, we review the renal involvement and pathology in the classical, renal and cardiac variant phenotypes, and present highlights of the preclinical studies and clinical trials that demonstrated the safety and effectiveness of recombinant α-Gal A replacement for this inherited nephropathy.

Original languageEnglish (US)
Pages (from-to)1-8
Number of pages8
JournalClinical nephrology
Volume57
Issue number1
DOIs
StatePublished - Jan 1 2002
Externally publishedYes

Keywords

  • Enzyme replacement therapy
  • Fabry disease
  • Lysosomal storage disease
  • Renal dialysis
  • Renal transplantation
  • α-galactosidase A

ASJC Scopus subject areas

  • Nephrology

Fingerprint Dive into the research topics of 'Enzyme replacement therapy for fabry disease, an inherited nephropathy'. Together they form a unique fingerprint.

  • Cite this