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Abstract: SA-PO617

Quantifying Mendelian Genetic Disease in the Pediatric Renal Clinic

Session Information

Category: Genetic Diseases of the Kidney

  • 803 Genetic Epidemiology and Other Genetic Studies of Common Kidney Diseases


  • Upendran, Yadhavan, University of New South Wales, Sydney, New South Wales, Australia
  • Mackie, Fiona, Sydney Children's Hospital, Randwick, New South Wales, Australia
  • Spicer, Rebecca A., Sydney Children's Hospital, Randwick, New South Wales, Australia
  • Kim, Siah, Sydney Children's Hospital, Randwick, New South Wales, Australia
  • Kennedy, Sean E., Sydney Children's Hospital, Randwick, New South Wales, Australia
  • Mccarthy, Hugh J., Sydney Children's Hospital, Randwick, New South Wales, Australia

With the advent of new sequencing technology, gene tests are more readily available to the nephrologist and increasingly cost effective. Planning is required to provide the same level of counseling for those now undergoing testing in the renal clinic compared to the clinical genetic clinic. The aim of this study was to determine the prevalence of disease with a likely genetic aetiology within the paediatric renal clinic.


An algorithm was configured to determine those with a possible Mendelian genetic aetiology to disease who could be offered gene testing. A retrospective review was then undertaken of new referrals to the renal clinic at a tertiary children’s hospital from 2012-2015 to determine the number of patients who would have then required genetic counseling.


The algorithm identified risk as Inherited Glomerular (including steroid resistant or congenital nephrotic syndrome and Alport's syndrome); Tubular or Metabolic disorders; Complement mediated disorders, Nephrocalcinosis/lithiasis; Cystic Kidney Disease; Syndromic Congenital Anomalies of Kidney and Urinary Tract (CAKUT); other including familial not otherwise specified. Simple CAKUT was excluded due to low rate of identifiable genetic aetiology. In the total cohort, the mean age at presentation was 5.25 years and male to female ratio was 1.52.
173/751 (23%) patients so far analysed have a possible genetic aetiology to their renal disease and could have been offered genetic counseling +/- testing.


Gene testing is becoming a routine component of clinical practice within nephrology either to direct management; aid diagnostic dilemmas; inform for family planning or living donation. The number of patients who would benefit justifies establishing a separate renal genetic service to run concurrently with the routine service in order to ensure optimal counseling for patients and their families.

Sub-category split of genetic at risk cohort
 Number n=173 (%)
Glomerular39 (22.5)
CAKUT58 (33.5)
Cystic17 (9.8)
Tubular/Metabolic10 (5.8)
Nephrocalcinosis/Lithiasis23 (13.3)
Complement Mediated4 (2.3)
Other22 (12.7)