The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study

Mallett, Andrew, Kearey, Phoebe Jane, Cameron, Anne, Healy, Helen G., Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha Louise, Fuller, Maria, Wang, Zaimin, and Hoy, Wendy E. (2022) The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study. BMC Nephrology, 23 (1). 169.

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Background: Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%.

Methods: We undertook a cross-sectional study employing a cascade screening strategy for Fabry Disease amongst 3000 adult, male and female patients affected by CKD stage 1-5D/T at public, specialty renal practices within participating Queensland Hospital and Health Services from October 2017 to August 2019. A multi-tiered FD screening strategy, utilising a combination of dried blood spot (DBS) enzymatic testing, and if low, then lyso-GB3 testing and DNA sequencing, was used.

Results: Mean (SD) age was 64.0 (15.8) years (n = 2992), and 57.9% were male. Eight participants withrew out of the 3000 who consented. Of 2992 screened, 6 (0.20%) received a diagnosis of FD, 2902 (96.99%) did not have FD, and 84 (2.81%) received inconclusive results. Of the patients diagnosed with FD, mean age was 48.5 years; 5 were male (0.29%) and 1 was female (0.08%); 4 were on kidney replacement therapy (2 dialysis and 2 transplant); 3 were new diagnoses.

Conclusions: Estimated overall FD prevalence was 0.20%. Screening of the broader CKD population may be beneficial in identifying cases of FD. Trial registration: The aCQuiRE Study has been prospectively registered with the Queensland Health Database of Research Activity (DORA, as pj09946 (Registered 3rd July 2017).

Item ID: 74430
Item Type: Article (Research - C1)
ISSN: 1471-2369
Keywords: Chronic kidney disease, Fabry disease, Screening
Copyright Information: © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Date Deposited: 12 Oct 2022 03:16
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100%
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