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Kidney Week

Abstract: TH-PO710

Outcomes of Patients with Genetic Renal Disease in Regional Australia

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Jose, Matthew D., Royal Hobart Hospital, Hobart, Tasmania, Australia
  • Brailsford, Gabrielle Elizabeth, University of Tasmania, Hobart, Tasmania, Australia
  • Cash, Ellie, University of Tasmania, Hobart, Tasmania, Australia
  • Mallett, Andrew John, Royal Brisbane and Women's Hospital, Stafford, Queensland, Australia
  • Kirkland, Geoff, Royal Hobart Hospital, Hobart, Tasmania, Australia

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. Our aim was to evaluate the outcomes patients with genetic renal disease (GRD) in Tasmania, Australia.


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 1stJanuary 2012 until 1st May 2018. After discarding duplicates, 2434 individuals referred to tertiary renal services were reviewed.


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 (in non-dialysis patients) between cohorts. Since 2012, GRD patients have more commonly developed ESKD, commenced renal replacement therapy (RRT) or 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 Congenital Abnormalities of the Kidneys and Urinary Tract (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. Very few of the people with GRD were known to the Tasmanian Clinical Genetics Service, had received genetic testing or counselling.


Patients with GRD in Tasmania experience earlier morbidity, including the need for RRT and transplant. This data supports the development of a tailored genetic renal service to improve outcomes in affected individuals in Regional Australia.