G BRAILSFORD1, E CASH1, J BURKE3, AJ MALLETT4,5,6, G KIRKLAND1,2, M JOSE1,2
1School Of Medicine, University Of Tasmania, Hobart, Australia, 2Renal Unit, Royal Hobart Hospital, Hobart, Australia, 3Tasmanian Clinical Genetics Service, Hobart, Australia, 4Department of Renal Medicine, RBWH, Herston, Australia, 5Faculty of Medicine, The University of Queensland, Herston, Australia, 6KidGen Collaborative Australian Genomics Health Alliance, Parkville, Australia
Background: Genetic aetiology comprises a significant proportion of adults with chronic kidney disease (CKD) who develop end-stage kidney disease (ESKD) and experience an excess of morbidity and mortality.
Aim: To establish the prevalence of genetic renal disease (GRD) in Tasmania.
Methods: Individuals with GRD in Tasmania were identified from AUDIT4 (renal unit clinical database, n=2407) and ANZDATA (Australia and New Zealand Dialysis and Transplantation Registry, n=361) from 1st January 2012. After discarding duplicates, 2434 individuals referred to tertiary renal services were reviewed.
Results: In Tasmania, GRD comprised 8.5% of the CKD population (208/2434). GRD patients were younger than non-GRD patients (mean 52y vs. 64y, p <0.001). There was no significant difference in gender or mean eGFR between cohorts. Since 2012, GRD patients have more commonly developed ESKD, commenced RRT and received transplants than non-GRD patients (40% vs. 17%, p<0.001; 39.4% vs. 12.3% p<0.001; 30.3% vs. 5% p<0.001). Furthermore, GRD patients commenced RRT at a younger age (mean 46y vs 55y, p<0.001).
Of the GRD cohort, there was no significant difference in gender. Cystic kidney disease was the most common GRD (48%), followed by CAKUT (37%). Patients with CAKUT started RRT younger than those with cystic disease (mean 39y vs. 55y, p<0.001). Those who received transplants did so earlier (mean 36y vs. 52y, p<0.001). Patients with Glomerular, Tubular/Metabolic or other uncommon GRDs were more likely to be older males. Few GRD patients were known to the Tasmanian clinical genetics service, had undergone genetic testing or recieved counselling.
Conclusions: GRD constitutes a significant proportion of CKD in Tasmania. This data supports the development of a tailored genetic renal service for affected individuals.
Gabrielle is a final year medical student at the University of Tasmania.