Kidney Transplantation in Patients with Fabry Disease—A Case Series from a Single Romanian Center

Fabry disease (FD) is a rare, X-linked, lysosomal storage multisystemic disorder which may lead to kidney failure and require kidney transplantation (KT). Data on long-term kidney allograft outcomes and the evolution of systemic FD under dis-ease-specific therapy after KT remain limited. We retrospectively evaluated six kidney transplant recipients (KTRs) with FD followed in our center for median tine after KT of 7 years (range, 4-13). Five patients (83.3%) were males and five had a classic Fabry phe-notype. At last follow-up patient survival was 100% and five out of six KTR had a func-tional kidney graft. Among KTRs with a functioning graft, the median change is esti-mated glomerular filtration rate from 1-year to last follow-up was +3.3 ml/min/1.73m2 (range, -50.7 to +10.5), while proteinuria remained low. One patient developed late an-tibody-mediated rejection with de novo donor-specific antibodies and graft loss at 8 years post-transplantation. Five KTRs were receiving enzyme replacement therapy at the time of KT. Three patients were subsequently switched to migalastat and two later returned to enzyme replacement therapy. Lyso-Gb3 and cardiac structural parameters showed heterogenous longitudinal trajectories despite generally preserved kidney graft function. No cardiovascular events occurred during follow-up. These findings support KT as an effective renal replacement therapy in FD and highlight the need for contin-uous Fabry-specific therapy and multidisciplinary surveillance after transplantation.