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Kidney Week

Abstract: PO1605

Ckd.Qld fabRy Epidemiology (aCQuiRE) Study: Fabry Disease Prevalence Among Patients with CKD

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Mallett, Andrew John, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  • Kearey, Phoebe Jane, The University of Queensland Faculty of Medicine, Herston, Queensland, Australia
  • Cameron (Salisbury), Anne, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  • Healy, Helen G., Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  • Denaro, Charles P., Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  • Thomas, Mark AB, Royal Perth Hospital, Perth, Western Australia, Australia
  • Lee, Vincent W.S., Westmead Hospital, Westmead, New South Wales, Australia
  • Fuller, Maria, Genetics and Molecular Pathology Laboratory, SA Pathology, Adelaide, South Australia, Australia
  • Hoy, Wendy E., The University of Queensland Faculty of Medicine, Herston, Queensland, Australia

Group or Team Name

  • aCQuiRE Study Team
Background

Fabry disease (FD) is a rare, genetic disorder resulting in absence or deficiency of alpha-galactosidase A (α-Gal A), leading to accumulation of globotriaosylceramide (GB3) in cells and tissues. Associated mortality and morbidity are due to renal, cardiac, and cerebrovascular manifestations. General population prevalence is ~0.0025%. Dialysis population prevalence is estimated at 0.12-0.36%. Little is known about the prevalence of FD amongst wider chronic kidney disease (CKD) populations. Although FD is X-linked, affected females can have variable disease manifestations. Prevalence amongst women is unclear.

Methods

A prospective cross-sectional study of FD prevalence amongst CKD patients in public Queensland nephrology services was undertaken across 7 sites Oct 2017-Aug 2019. Patients with all stages of CKD including Stage 5D/5T were eligible to participate, irrespective of prior CKD aetiology or diagnosis.3,000 CKD patients were screened using dried blood spot (DBS) testing. Repeat DBS and/or Lyso-GB3 testing was employed where results were inconclusive. FD was confirmed through diagnostic GLA genetic sequencing. All biochemical and genetic testing was undertaken in an accredited clinical laboratory.

Results

6 unrelated cases (0.20%) of FD were identified. 3 were patients with a previously identified diagnosis of FD (100% sensitivity). 3 were patients with a new diagnosis of FD as a result of study participation. Of these 6 identified cases, 5/6 were male and 1/6 was female. This represented 0.3% and 0.08% of all male and female participants respectively. All newly diagnosed cases were male with two being CKD Stage 5T, and one being CKD Stage 5D. One case was in a participant who identified as Indigenous, the first known case in this population. In total, an additional 28 at-risk family members were identified who may benefit from family screening. No readily identifiable pattern of symptoms was identified.

Conclusion

Our results support the potential feasibility and utility of a cascade testing strategy principally using DBS, as a primary screening method for FD in adult patients with CKD. Further, we confirm that a significant proportion of prevalent cases of FD amongst those with CKD remains undiagnosed.

Funding

  • Commercial Support