QUANTIFICATION OF MENDELIAN GENETIC DISEASE IN THE PAEDIATRIC RENAL CLINIC

Y UPENDRAN1, D MOWAT1,2, S  ALEXANDER3,4, S KENNEDY1,5, H McCARTHY1,3,4,5
1School of Women’s and Children’s Health, University of New South Wales, Sydney, Australia, 2Department of Clinical Genetics, Sydney Children’s Hospital, Randwick, Australia, 3Department of Nephrology, Children’s Hospital at Westmead, Westmead, Australia, 4Discipline of Paediatrics, University of Sydney, Sydney, Australia, 5Department of Nephrology, Sydney Children’s Hospital, Randwick, Australia

Aim: To determine the incidence of renal disease with a likely genetic aetiology in new referrals to tertiary paediatric nephrology within New South Wales (NSW).
Background: The introduction of massively parallel sequencing technology into the clinical sphere now provides additional, readily available and cost-effective testing for most genetic renal diseases. Yet, the size of the at-risk population who might benefit from this service is unknown which prevents accurate planning of services.
Methods: An algorithm was configured to determine children who had renal disease with a possible Mendelian genetic aetiology. A retrospective review of medical records was then undertaken for all new referrals to tertiary paediatric nephrology units within NSW from 2011-2015.  
Data collected included diagnosis, demographics and outcomes for those considered at-risk.
Results: Of 2285 new referrals seen during this period, 477 (20.9%) patients had a renal condition with a possible genetic basis. Syndromic CAKUT, glomerulopathies and ciliopathies accounted for >70% of the at-risk cohort. 211 (44%) of those at-risk had a positive family history although recorded consanguinity was low. Co-morbidities were common, particularly neurocognitive (21%). 185 (39%) had genetic testing of some form and in 105 of these (57%) a disease causing variant was found.
Conclusion: Approximately 100 children present to NSW tertiary nephrology per year with a disease of possible genetic aetiology. This has significant implications for themselves and their family. Service planning will ensure that this under recognised need is met with appropriate resources particularly counselling and sequencing technology. Future studies will look to further understand and address the needs of these children and their families.


Biography:
Mr Upendran is a fourth year medical student who completed this project as an independent learning project at the University of New South Wales.

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