Fabry Disease Screening in Kidney Transplant Recipients: A Single-Center Retrospective Study

Background: Fabry disease (FD) is an X linked lysosomal storage disorder caused by deficient α galactosidase A (α GAL A) activity, leading to progressive multisystem involvement, including kidney disease. Evidence on FD screening in kidney transplant recipients is limited. We aimed to evaluate the results of FD screening tests requested due to clinical suspicion in kidney transplant recipients followed at a tertiary referral center.Methods: This single center retrospective observational study included 59 kidney transplant recipients for whom FD screening was requested between January and February 2022. Dried blood spots (DBS) were used in both sexes. Female recipients underwent direct GLA next generation sequencing (NGS) from DBS without enzyme testing. Male recipients underwent fluorometric measurement of α GAL A activity from DBS; cases with low/borderline activity underwent confirmatory GLA NGS. Genetic analyses were performed at Düzen Laboratory in Ankara. Clinical and demographic data were extracted from electronic records.Results: Mean age was 54.80±12.30 years and 27 recipients were female. Among 32 male recipients, α GAL A activity was ≤2.5 nmol/mL/h in three cases; confirmatory GLA NGS was negative in all. Two female recipients had heterozygous GLA variants [c.937G>T (p.Asp313Tyr, D313Y) and c.894T>C (p.Asn298=)] without overt FD phenotype in available records.Conclusions: Enzymatic abnormalities and/or GLA variants may be identified in kidney transplant recipients even in small cohorts. Borderline enzyme activity results and variants of uncertain significance should be interpreted together with genetic confirmation and careful clinical correlation.