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Abstract: FR-PO938

Fabry Disease and Renal Transplant

Session Information

Category: Glomerular Diseases

  • 1204 Podocyte Biology

Author

  • Toniolo, Maria Fernanda, Centro de Diagnostico Patologico, Buenos Aires, Argentina
Introduction

: Fabry disease is a rare, X linked, multisystemic, multiorgan disorder in wich globotriaosylceramide (GL3) and other glycosphingolipids accumulate within lysosomes due to deficient activity of alpha-galactosidase A. The accumulation of GL3 in multiple cell types is associated with severe complications including cardiac events, stroke and renal failure. Fabry Nephropathy can lead to end stage renal disease requiring renal transplantation.Little is know about this outcomes and the overall patient survival after kidney transplantation.

Case Description

Here we report two Fabry patients (1 male and 1 female) who received kidney transplant and their treatment and follow-up with kidney biopsy at 5 and 10 years. Patients are 42 and 43 years old and received kidneys from deceased donors. We performed renal biopsies in both cases and GL3 levels in each patient.

Discussion

Over 874 kidney transplants perfomed at our Center, 3 patients had pre-transplant, Fabry Disease diagnosis. One patient died , 10 years post transplantation. Two more patients had excellent outcome with serum creatinine between 1,23 and 1,57 md/dl and Lyso GL3 between 14,9 and 52. In spite of good renal function, we decide to performed renal biopsies. Both patients show abnormalities: podocytes deposits of GLB3 , in arteries and also found deposits in mesangial cells. Electron-dense lamellar inclusions were found in podocytes, and vascular endothelial cells.