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.

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

Veroux M.
;
Monte I. P.;Corona D.;Bella R.;Basile A.;Palmucci S.;Pistorio M. L.;Lanza G.;De Pasquale C.;Veroux P.
2020

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.
D165H
D313Y
F113L
Fabry disease
Fabry nephropathy
GLA mutation
Kidney transplantation
Lyso Gb3
Multidisciplinary team
S126G
Screening
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/20.500.11769/485385
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