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COPY NUMBER VARIATION: A NEW PROGNOSTIC FACTOR OF RENAL
FUNCTION IN BOYS WITH POSTERIOR URETHRAL VALVES?
Alice FAURE
1
, Georgina CARUANA
2
, Amanda WALKER
3
, Mili WONG
2
, Aurore BOUTY
1
, Mike O'BRIEN
1
and Yves HELOURY
3
1) Royal Children's Hospital, Urology Department, Melbourne, AUSTRALIA - 2) Monash University, Department of
Anatomy and Developmental Biology, Melbourne, AUSTRALIA - 3) Royal Children's Hospital, Nephrology Department,
Melbourne, AUSTRALIA
PURPOSE
Posterior urethral valve (PUV) is the most common urological cause for chronic kidney disease (CKD) in childhood. The
aim of this study was to screen copy number variations (CNV) in PUV patients in order to correlate the phenotype (renal
function) to the presence or absence of CNV.
MATERIAL AND METHODS
46 children diagnosed with PUV were prospectively included (September 2012-April 2015). With provided informed
consent, genomic DNA was isolated from peripheral blood samples. Medical records of patients were retrospectively
reviewed. The criteria for outcomes of renal function were CKD (eGFR<60 mL/min/1.73 m
2
) and end-stage kidney
failure-ESKF (eGFR<15 mL/min/1.73 m
2
).
RESULTS
CNV (5 duplications and 2 deletions) were detected in 7 patients (15.2%) with PUV. The mean follow-up was 10.5 years
(2.7-17) in the group CNV+ versus 6.1 years (5months-17years) in the group CNV-. The incidence of ESKF was 57% in
the group CNV+ (4/7- 3 mutations) and 20% in the group CNV- (9/39) (p=0.06). In the group CNV+, they developed
ESKF at the median age of 7 months (4 months-8 years) compared to a median age of 5 years (3-8.7 years) in the
group CVN-. Nine patients in the group CNV- had a CKD III and IV (23%).
CONCLUSIONS
Even not statistically significant, our data showed than CNV+ patients had an earlier ESKF. A large multicentric study is
necessary in order to confirm these data. Identifying specific mutations in PUV patients could provide a crucial
information and guide prenatal counselling.