TY - JOUR
T1 - Screening for fabry disease in kidney transplant recipients
T2 - Experience of a multidisciplinary team
AU - “Multidisciplinary Research Center for the diagnosis treatment of Fabry Disease for Organ Transplantation”
AU - Veroux, Massimiliano
AU - Monte, Ines P.
AU - Rodolico, Margherita S.
AU - Corona, Daniela
AU - Bella, Rita
AU - Basile, Antonio
AU - Palmucci, Stefano
AU - Pistorio, Maria L.
AU - Lanza, Giuseppe
AU - De Pasquale, Concetta
AU - Veroux, Pierfrancesco
N1 - Funding Information:
Funding: This research was funded by the University of Catania Piaceri 2020 Project “FAMOUS”. Shire Italy (genetic analysis) and Sanofi Genzyme (data analysis) contributed to funding the research.
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/10
Y1 - 2020/10
N2 - 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.
AB - 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.
KW - D165H
KW - D313Y
KW - F113L
KW - Fabry disease
KW - Fabry nephropathy
KW - GLA mutation
KW - Kidney transplantation
KW - Lyso Gb3
KW - Multidisciplinary team
KW - S126G
KW - Screening
UR - http://www.scopus.com/inward/record.url?scp=85093977757&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85093977757&partnerID=8YFLogxK
U2 - 10.3390/biomedicines8100396
DO - 10.3390/biomedicines8100396
M3 - Article
AN - SCOPUS:85093977757
VL - 8
SP - 1
EP - 13
JO - Biomedicines
JF - Biomedicines
SN - 2227-9059
IS - 10
M1 - 396
ER -