Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team
Open Access
- 7 October 2020
- journal article
- research article
- Published by MDPI AG in Biomedicines
- Vol. 8 (10), 396
- https://doi.org/10.3390/biomedicines8100396
Abstract
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach. Two hundred sixty-five kidney transplant recipients were screened with a genetic analysis for α-galactosidase A (GLA) mutation, with measurement of α-Gal A enzyme activity and Lyso Gb3 levels. Screening was also extended to relatives of affected patients. Seven patients (2.6%) had a GLA mutation. Two patients had a classic form of FD with Fabry nephropathy. Among the relatives, 15 subjects had a GLA mutation, and two had a Fabry nephropathy. The clinical and diagnostic assessment was completed after a median of 3.2 months, and mean time from diagnosis to treatment was 4.6 months. This study reported a high incidence of unrecognized GLA mutations in kidney transplant recipients. Evaluation and management by a multidisciplinary team allowed for an early diagnosis and treatment, and this would result in a delay in the progression of the disease and, finally, in better long-term outcomes.Keywords
This publication has 50 references indexed in Scilit:
- Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A GenePLOS ONE, 2013
- Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best PracticeNephrology Dialysis Transplantation, 2012
- Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry DiseaseJIMD Reports, 2012
- Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)Clinical Genetics, 2011
- Fabry diseaseOrphanet Journal of Rare Diseases, 2010
- Screening for Fabry disease in high-risk populations: a systematic reviewJournal of Medical Genetics, 2009
- Kidney transplantation in patients with Fabry diseaseTransplant International, 2009
- Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in AustriaTransplant International, 2009
- Patients with Fabry disease on dialysis in the United StatesKidney International, 2002
- Rare diseases in renal replacement therapy in the ERA-EDTA RegistryNephrology Dialysis Transplantation, 1996