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

Divisions of Pediatric Nephrology and Hypertension, Maimonides Infants and Children's Hospital, Brooklyn, New York 11219, USA.
PEDIATRICS (Impact Factor: 5.47). 09/2009; 124(4):e615-21. DOI: 10.1542/peds.2009-0181
Source: PubMed


The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population.
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.
Between 1992 and 2004, 3832 children with DS and 3 411 833 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.
Children with DS have significantly increased risks of RUTAs.

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    • "Although considered a soft marker during the second trimester, recent studies demonstrate that bilateral hydronephrosis could be an important alarm sign for aneuploidies even in the first trimester of gestation (Dagklis et al. 2008) (Dagklis et al. 2008). For the patients diagnosed with Down syndrome, the urinary tract anomalies are a significant cause of morbidity (Kupferman et al. 2009). Sometime, subtle anomalies of the kidneys are poorly described or even overlooked. "

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