Screening for fabry disease in kidney transplant recipients: Experience of a multidisciplinary team

“Multidisciplinary Research Center for the diagnosis treatment of Fabry Disease for Organ Transplantation”

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number396
Pages (from-to)1-13
Number of pages13
Issue number10
Publication statusPublished - Oct 2020


  • D165H
  • D313Y
  • F113L
  • Fabry disease
  • Fabry nephropathy
  • GLA mutation
  • Kidney transplantation
  • Lyso Gb3
  • Multidisciplinary team
  • S126G
  • Screening

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Biochemistry, Genetics and Molecular Biology(all)


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