Sara Ersözlü1,2, Robert J Desnick3, Uyen Huynh-Do4, Sima Canaan-Kühl5, Frédéric Barbey6, Vera Genitsch7, Thomas F Mueller8, Marcus Cheetham2, Andreas J Flammer9, Stefan Schaub10, Albina Nowak2,9. 1. Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland. 2. Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland. 3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. 4. Department of Nephrology and Hypertension, Inselspital, University of Bern, Bern, Switzerland. 5. Division of Nephrology and Intensive Care Medicine, CVK, Charité Universitätsmedizin, Berlin, Germany. 6. Service of Genetic Medicine, University Hospital Lausanne, Switzerland. 7. Institute of Pathology, University Bern, Bern, Switzerland. 8. Department of Nephrology, University Hospital Zurich, Zurich, Switzerland. 9. University Heart Centre, University Hospital Zurich, Zurich, Switzerland. 10. Clinic for Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland.
Abstract
BACKGROUND: Fabry disease (FD) 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 male and 2 female subjects) 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 male subjects 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 FD.
BACKGROUND:Fabry disease (FD) 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 male and 2 female subjects) 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 male subjects 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 FD.
Authors: Cassiano Augusto Braga Silva; Luis Gustavo Modelli de Andrade; Maria Helena Vaisbich; Fellype de Carvalho Barreto Journal: J Bras Nefrol Date: 2022 Apr-Jun
Authors: Cassiano Augusto Braga Silva; José A Moura-Neto; Marlene Antônia Dos Reis; Osvaldo Merege Vieira Neto; Fellype Carvalho Barreto Journal: Can J Kidney Health Dis Date: 2021-01-19