M SUET YING NG1,2, E MALACOVA3, C HURST3, A J MALLETT1,2
1Kidney Health Service, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 2Faculty of Medicine and Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia, 3QIMR Berghofer Medical Research Institute, Brisbane, Australia
Aim: This study aimed to characterise the clinical features of Fabry disease (FD) patients who received kidney transplants in Australia and New Zealand.
Background: FD is a X-linked lysosomal storage disease caused by a deficiency in the enzyme, α-galactosidase A. FD progresses to chronic kidney disease, cardiomyopathy, deafness and cerebrovascular disease from 20-30 years of age.
Methods: All patients who received a renal transplant between 1963-2017 were extracted from the Australian and New Zealand Dialysis and Transplant (ANZDATA) registry. Univariate and multivariate Cox-proportional hazards models were used to evaluate the association between patient and transplant factors with mortality. Age, gender, smoking status, body mass index, ethnicity, diabetes, first kidney replacement therapy modality, dialysis commencement relative to enzyme replacement therapy availability, donor source and transplant era were assessed as covariates. Hazard ratios (HR) and 95% confidence intervals (CI) were calculated for each characteristic.
Results: 20 FD and 26,511 non-FD patients were included in the transplant cohort. 1 year patient survival, 3 year patient survival and 5 year patient survival were 90.0%, 85.0% and 80.0% respectively for FD patients and; 94.1%, 89.9% and 86.0% for non-FD patients. The main cause of death in both FD and non-FD patients was cardiac disease. Transplant patients with FD had increased mortality risk compared to transplant patients without FD (HR 3.63, 95% CI 1.63-8.10) in adjusted analyses. Increasing age, any cigarette smoking, underweight or obesity, diabetes and deceased donor were associated with increased mortality risk.
Conclusions: FD patients had higher mortality risk compared to non-FD patients. Further investigations are required to corroborate these findings in FD patients from other jurisdictions.
Dr Monica Suet Ying Ng works as a renal registrar at the Royal Brisbane and Women’s Hospital and is currently in her first year of renal advanced training. She completed her PhD in 2019 investigating the adverse effects of blood product storage duration using individual patient data meta-analyses and bioengineered vascular models. Her current primary research interest is glomerulonephritides which aligns with her clinical interests in nephrology and laboratory interests in vascular engineering.