@article{ed705dd6bd5043e685054ed2582a622e,
title = "The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study",
abstract = "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, https://dora.health.qld.gov.au) as pj09946 (Registered 3rd July 2017).",
keywords = "Chronic kidney disease, Fabry disease, Screening",
author = "Andrew Mallett and Kearey, {Phoebe Jane} and Anne Cameron and Healy, {Helen G.} and Charles Denaro and Mark Thomas and Lee, {Vincent W.} and Stark, {Samantha Louise} and Maria Fuller and Zaimin Wang and Hoy, {Wendy E.}",
note = "Funding Information: The aCQuiRE Study is an investigator-initiated study, funded by Sanofi Genzyme and sponsored by The University of Queensland. The study funder (Sanofi Genzyme) has provided funding for the study that has been administered by The University of Queensland. An investigator-initiated and formulated study proposal was placed to the funder without the study funder having been involved in its formulation or drafting. Apart from progress reports provided to the study funder throughout the study, the study funder has not had involvement in the undertaking of the study. The study funder has not been involved in either the design or operation of the study. Funding Information: The authors would like to acknowledge the research nurses at each site for consenting, screening, data collection and follow-up of patients, in particular, the Site Coordinators (Dr Leanne Brown, Belinda Elford, Erica Lennan, Stella Green, Chris Banney, Ian Fox, Rita Faulks and Carmen Crawshaw). Screening was conducted under the oversight of site lead investigators (Dr Ken Soon Tan, Dr. Shyam Dheda, Dr. Roy Cherian, Dr. Krishan Madhan, Dr. Sree Krishna Venuthurupalli, Dr. Dakshinamurthy Divi and Dr. Helen Healy). All pathology samples are analysed by the Genetics and Molecular Pathology laboratory of South Australia Pathology. Funding Information: AJM has received support from an RACP Jacquot Research Establishment Fellowship and a MNHHS Clinical Research Fellowship. Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
month = dec,
doi = "10.1186/s12882-022-02805-8",
language = "English",
volume = "23",
journal = "BMC Nephrology",
issn = "1471-2369",
publisher = "BioMed Central",
number = "1",
}