Clinical Outcomes of People With Fabry Disease — ANZDATA Registry Study

Journal Publication ResearchOnline@JCU
Ng, Monica S.;Malacova, Eva;Hurst, Cameron;Johnson, David W.;Mallett, Andrew
Abstract

Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme, α-galactosidase A. FD has neurologic, cardiovascular, and kidney manifestations. Kidney dysfunction contributes significantly to mortality in people with FD. Analysis of the Fabry Registry showed that 57% of people with FD who died from cardiovascular causes had previously received kidney replacement therapy (KRT).1 Recombinant α-galactosidase A can be used to replace endogenous α-galactosidase A and has been available since 2001.2 To date, there has been limited information about the prognostic predictors and outcomes of people with FD on KRT, or about the effect of enzyme replacement therapy (ERT) in KRT populations. Furthermore, the absence of a control group (nontreated people with FD or transplant recipients without FD) makes the effect of ERT on posttransplantation clinical outcomes difficult to assess.3,4 The Australian and New Zealand Dialysis and Transplant (ANZDATA) registry captures clinical outcomes information for people receiving KRT in Australia and New Zealand. The primary aim was to compare the characteristics and outcomes of those with FD on KRT compared to those without FD. Secondary analyses aimed to determine if people commencing KRT after the introduction of ERT (2001) had altered mortality risk. Results

Journal

Kidney International Reports

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N/A

Volume

6

ISBN/ISSN

2468-0249

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Issue

9

Pages Count

5

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Publisher

Elsevier

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Publisher Location

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Date

N/A

EISSN

N/A

DOI

10.1016/j.ekir.2021.06.013