Abstract: PO1605
Ckd.Qld fabRy Epidemiology (aCQuiRE) Study: Fabry Disease Prevalence Among Patients with CKD
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - 1
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
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 –