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Outcomes and management of kidney transplant recipients with Fabry disease: a review

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Abstract

Fabry disease is an X-linked inheritable lysosomal storage disease caused by various mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic kidney disease (CKD) is one of the most significant consequences of Fabry disease, with risk of end-stage kidney disease (ESKD) in this population. Like for other patients with ESKD, kidney transplant is the optimal treatment for Fabry disease patients with ESKD. However, enzyme replacement therapy and newer Fabry disease treatments remain important to mitigate other end organ damage such as cardiomyopathy post transplantation. This review is a primer on Fabry disease, which examines the outcomes of disease in the context of kidney transplant prior to, and during, the enzyme replacement treatment era, medical treatment of kidney transplant recipients with Fabry disease, and progress in screening studies.

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Authors and Affiliations

  1. Department of Medicine, University of Maryland Medical Center, Midtown Campus, Baltimore, MD, USA

    Bo Yu

  2. Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Mohamed G. Atta, Daniel C. Brennan & Sam Kant

  3. Comprehensive Transplant Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Daniel C. Brennan & Sam Kant

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Yu, B., Atta, M.G., Brennan, D.C. et al. Outcomes and management of kidney transplant recipients with Fabry disease: a review. J Nephrol (2024). https://doi.org/10.1007/s40620-023-01853-z

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