ArticleBMC nephrology2022
The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.
Article in BMC nephrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- A Systematic Literature Review on the Use of Dried Biofluid Microsampling in Patients With Kidney Disease.Journal of clinical laboratory analysis · 2024Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023.Molecular genetics and metabolism reports · 2026Article
- Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.Renal failure · 2025Article
- Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.ESC heart failure · 2024Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Outcomes and management of kidney transplant recipients with Fabry disease: a review.Journal of nephrology · 2024Review
- Monogenic Kidney Diseases in Kidney Transplantation.Kidney international reports · 2024Review
- Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine.Kidney research and clinical practice · 2024Article
- Fabry disease - what a gastroenterologist should know.Przeglad gastroenterologiczny · 2023Review
- Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report.Cureus · 2022Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%.
methodsWe 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.
resultsMean (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.
conclusionsEstimated overall FD prevalence was 0.20%. Screening of the broader CKD population may be beneficial in identifying cases of FD.
trial registrationThe 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).
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