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Published online September 14, 2009
PEDIATRICS Vol. 124 No. 4 October 2009, pp. e615-e621 (doi:10.1542/peds.2009-0181)
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ARTICLE

Increased Prevalence of Renal and Urinary Tract Anomalies in Children With Down Syndrome

Juan C. Kupferman, MD, MPHa, Charlotte M. Druschel, MD, MPHb, Gabriel S. Kupchik, MDc

Divisions of a Pediatric Nephrology and Hypertension
c Genetics, Maimonides Infants and Children's Hospital, Brooklyn, New York
b New York State Congenital Malformation Registry, New York State Department of Health, Troy, New York

OBJECTIVE: The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population.

METHODS: Data were obtained from the New York State Congenital Malformation Registry (NYS-CMR) in this retrospective cohort study. The occurrence of RUTAs was assessed for children with and without DS who were born in NYS between 1992 and 2004. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated for each malformation.

RESULTS: Between 1992 and 2004, 3832 children with DS and 3411833 without DS were born in NYS. The prevalence of RUTAs in the DS population was 3.2%, compared with 0.7% in the NYS population (OR: 4.5 [95% CI: 3.8–5.4]). Children with DS had significantly increased risks of anterior urethral obstruction (OR: 29.7 [95% CI: 4.0–217.7]), cystic dysplastic kidney (OR: 4.5 [95% CI: 1.5–14.1]), hydronephrosis (OR: 8.7 [95% CI: 6.8–11.0]), hydroureter (OR: 8.5 [95% CI: 3.5–20.4]), hypospadias (OR: 2.0 [95% CI: 1.4–2.9]), posterior urethral valves (OR: 7.1 [95% CI: 1.8–28.8]), prune belly syndrome (OR: 11.9 [95% CI: 1.6–85.4]), and renal agenesis (OR: 5.4 [95% CI: 2.8–10.4]). There was no significantly increased risk of ectopic kidney (OR: 1.6 [95% CI: 0.2–11.2]) or ureteropelvic junction obstruction (OR: 1.4 [95% CI: 0.2–9.9]) in the DS population.

CONCLUSION: Children with DS have significantly increased risks of RUTAs.

Key Words: Down syndrome • kidney • urinary tract • congenital anomalies • trisomy 21 • prevalence

Abbreviations: DS—Down syndrome • CI—confidence interval • NYS—New York State • NYS-CMR—New York State Congenital Malformation Registry • OR—odds ratio • RUTA—renal and urinary tract anomaly

Accepted May 29, 2009.


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