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Article

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

by
Massimiliano Veroux
1,*,
Ines P. Monte
2,
Margherita S. Rodolico
3,
Daniela Corona
4,
Rita Bella
5,
Antonio Basile
6,
Stefano Palmucci
6,
Maria L. Pistorio
1,
Giuseppe Lanza
7,8,
Concetta De Pasquale
1,
Pierfrancesco Veroux
1 and
on behalf of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation
†
1
Organ Transplantation Unit, University Hospital of Catania, Department of Medical and Surgical sciences and Advanced Technologies, University of Catania, 95123 Catania, Italy
2
Cardiology Department Echocardiography Laboratory, Department of Cardiothoracic and Vascular, Policlinico “Vittorio Emanuele”, University of Catania, 95123 Catania, Italy
3
C.N.R. Institute for Biomedical Research and Innovation-IRIB, Section of Catania, Via P. Gaifami 18, 95126 Catania, Italy
4
Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy
5
Department of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy
6
Radiology I Unit, Department of Medical Surgical Sciences and Advanced Technologies “GF Ingrassia”, University Hospital “Policlinico-Vittorio Emanuele”, 95123 Catania, Italy
7
Policlinico-Vittorio Emanuele”, University of Catania, 95123 Catania, Italy
8
Oasi Research Institute-IRCCS. Via Conte Ruggero, 73, 94018 Troina, Italy
*
Author to whom correspondence should be addressed.
†
Membership of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation” is provided in the Acknowledgements.
Biomedicines 2020, 8(10), 396; https://doi.org/10.3390/biomedicines8100396
Submission received: 17 September 2020 / Revised: 28 September 2020 / Accepted: 1 October 2020 / Published: 7 October 2020
(This article belongs to the Special Issue Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies)
Review Reports Versions Notes

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: kidney transplantation; Fabry disease; Fabry nephropathy; screening; multidisciplinary team; Lyso Gb3; GLA mutation; D313Y; F113L; D165H; S126G kidney transplantation; Fabry disease; Fabry nephropathy; screening; multidisciplinary team; Lyso Gb3; GLA mutation; D313Y; F113L; D165H; S126G

Share and Cite

MDPI and ACS Style

Veroux, M.; Monte, I.P.; Rodolico, M.S.; Corona, D.; Bella, R.; Basile, A.; Palmucci, S.; Pistorio, M.L.; Lanza, G.; De Pasquale, C.; et al. Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. Biomedicines 2020, 8, 396. https://doi.org/10.3390/biomedicines8100396

AMA Style

Veroux M, Monte IP, Rodolico MS, Corona D, Bella R, Basile A, Palmucci S, Pistorio ML, Lanza G, De Pasquale C, et al. Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. Biomedicines. 2020; 8(10):396. https://doi.org/10.3390/biomedicines8100396

Chicago/Turabian Style

Veroux, Massimiliano, Ines P. Monte, Margherita S. Rodolico, Daniela Corona, Rita Bella, Antonio Basile, Stefano Palmucci, Maria L. Pistorio, Giuseppe Lanza, Concetta De Pasquale, and et al. 2020. "Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team" Biomedicines 8, no. 10: 396. https://doi.org/10.3390/biomedicines8100396

APA Style

Veroux, M., Monte, I. P., Rodolico, M. S., Corona, D., Bella, R., Basile, A., Palmucci, S., Pistorio, M. L., Lanza, G., De Pasquale, C., Veroux, P., & on behalf of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation. (2020). Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. Biomedicines, 8(10), 396. https://doi.org/10.3390/biomedicines8100396

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