Journal
BMC NEPHROLOGY
Volume 23, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12882-022-02805-8
Keywords
Fabry disease; Screening; Chronic kidney disease
Categories
Funding
- Sanofi Genzyme
- University of Queensland
- RACP Jacquot Research Establishment Fellowship
- MNHHS Clinical Research Fellowship
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The study found a prevalence rate of 0.2% for Fabry disease among CKD patients. Using a multi-tiered screening strategy, cases of FD can be identified in the CKD population.
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.
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