Long-Term Outcomes of Kidney Transplantation in Fabry Disease

Background Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity. This results in the systemic accumulation of its glycosphingolipid substrates in body fluids and organs, including the kidney. Fabry nephropathy can lead to end-stage renal disease requiring kidney transplantation. Little is known about its long-term outcomes and the overall patient survival after kidney transplantation. Methods Here, we report 17 Fabry patients (15 males, 2 females) who received kidney transplants and their long-term treatment and follow-up at 4 specialized Fabry centers. Results The posttransplant follow-up ranged to 25 years, with a median of 11.5 [range 0.8-25.5] years. Graft survival was similar and death-censored graft survival was superior to matched controls. Fabry patients died with functioning kidneys, mostly from cardiac causes. In 2 males 14 and 23 years posttransplant, the grafts had a few typical FD lamellar inclusions, presumably originating from invading host macrophages and vascular endothelial cells. Conclusions We conclude that kidney transplantation has an excellent long-term outcome in Fabry disease. Corresponding author: PD Dr. Albina Nowak, Universitäres Herzzentrum Zürich, Universitätsspital Zürich, Rämistrasse 100, CH-8091 Zürich, E-Mail: albina.nowak@usz.ch Authorship SE and AN participated in the research design, performance of the research, data analysis and writing of the paper. UHD, SCK, FB and SS participated in the performance of the research, data analysis and writing of the paper. RJD and VG participated in data analysis and the writing of the paper. TN, AF and MC participated in writing of the paper. Disclosures SE received a travel grant from Sanofi-Genzyme and Shire. AN received lecturing honoraria, and research support from Sanofi Genzyme and Shire. RJD is a consultant to Alexion Pharmaceuticals, Amicus Therapeutics, Sanofi-Genzyme, and Sangamo Therapeutics, has founder shares of Amicus Therapeutics and options of Sangamo Therapeutics, and receives royalties from Sanofi-Genzyme and Shire HRT. FB received a research grant from Shire. The other authors have no conflicts of interests. Funding AN received financial publication support for this paper from Sanofi Genzyme. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

https://ift.tt/2Jo4sDZ