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.
Keywords: Enzyme replacement therapy; Fabry disease; Fabry nephropathy; Kidney transplant; Outcome.
© 2024. The Author(s) under exclusive licence to Italian Society of Nephrology.