Anderson-Fabry Disease in Kidneys from Deceased Donor

Abstract

Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disease that leads to progressive intracellular accumulation of globotriaosylceramide in visceral organs and the vascular endothelium. We report two patients with end-stage renal disease who received renal allograft from deceased female donor who died from heart failure. A 62-year-old women received a renal allograft in July 2006. Except for lowrange proteinuria, renal function was normal until 6 months after transplantation when serum creatinine increased from 120 to 150 lmol/L. A renal biopsy was performed. Based on the specific pathological finding, AFD in donor was suspected. In order to prove the diagnosis, the other recipient also underwent renal biopsy 3 months later. This was 45-year-old female with stable graft function and nonnephrotic proteinuria. Light microscopic findings included a 'foamy' appearance of affected cells with swelling and vacuolization of podocytes. Electron microscopic finding show mesangial cells and podocytes filled with dense lysosomal granules appearing as myelin figures and 'zebra bodies'. Changes were less intensive than in the biopsy of the first recipient. The donor was 54-year-old Italian women who died on the Adriatic coast after heart attack. This is the first case of AFD found in a kidney allograft from deceased donor.

A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report

“…We report the first patient with end-stage lung disease who received a lung transplant, unaware of her multiorgan involving metabolic disease. Similar startling cases about renal transplant donors who had a GLA mutation are reported in the literature [10, 11]. This clinical presentation in connection with the new established diagnosis of Fabry disease points to some important issues.…”

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

“…The present study shows that case‐finding studies for Anderson–Fabry disease among male kidney transplant recipients have the potential to identify families with a hitherto unknown hereditary disease. The importance of our findings is also underlined by the recent observation of accidental transplantations of kidneys with Anderson–Fabry disease in a living related donor and a deceased donor scenario [18,19].…”

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease

“…Basic-Jukic et al published the case of a woman with undiagnosed Fabry disease who served as a kidney donor for two recipients following her death of cardiac origin at 54 years of age [76]. The first recipient, a 62 year-old woman who developed end-stage renal disease due to Balkan endemic nephropathy, developed persistent proteinuria of 1.2 g/day.…”