Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

Behzad Najafian, Einar Svarstad, Leif Bostad, Marie Claire Gubler, Camilla Tøndel, Chester Whitley, Michael Mauer

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124 Scopus citations


Progressive renal failure often complicates Fabry disease, the pathogenesis of which is not well understood. To further explore this we applied unbiased stereological quantitative methods to electron microscopic changes of Fabry nephropathy and the relationship between parameters of glomerular structure and renal function in 14 young Fabry patients (median age 12 years). Renal biopsies were obtained shortly before enzyme replacement therapy from these patients and from nine normal living kidney donors as controls. Podocyte globotriaosylceramide (GL-3) inclusion volume density increased progressively with age; however, there were no significant relationships between age and endothelial or mesangial inclusion volume densities. Foot process width, greater in male Fabry patients, also progressively increased with age compared with the controls, and correlated directly with proteinuria. In comparison to the biopsies of the controls, endothelial fenestration was reduced in Fabry patients. Thus, our study found relationships between quantitative parameters of glomerular structure in Fabry nephropathy and age, as well as urinary protein excretion. Hence, podocyte injury may play a pivotal role in the development and progression of Fabry nephropathy.

Original languageEnglish (US)
Pages (from-to)663-670
Number of pages8
JournalKidney international
Issue number6
StatePublished - Mar 2011

Bibliographical note

Funding Information:
BN received a travel grant from Genzyme to present part of the data presented in this paper at the ‘Focus on Fabry Nephropathy’ satellite meeting of the World Congress of Nephrology 2009, Bergamo, Italy. MM is a member of the Genzyme-sponsored Fabry Registry Board and has been a paid speaker at Genzymesponsored events. ES and CT have received travel grants from Genzyme and Shire and speakers fees from Genzyme. All the other authors declared no competing interests.


  • Fabry disease pathology
  • pediatric nephrology
  • podocyte
  • renal biopsy


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