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Serum Creatinine Levels in Children With Down Syndrome: A Single-Centre Retrospective Study in Ireland
C Broderick Farrell1, V Peronace2, A Stokes3
1Department of Child Development and Neurodisability, Children's Health Ireland, Tallaght, Dublin, Ireland.
Insights
Children with Down syndrome (DS) frequently show elevated creatinine levels, exceeding standard paediatric ranges. This finding in an Irish cohort highlights potential kidney function concerns requiring further investigation.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Biochemistry
Background:
- Down syndrome (DS) is associated with various health complications, including potential renal abnormalities.
- Standard paediatric reference ranges for creatinine may not fully capture the nuances in children with DS.
Purpose of the Study:
- To determine the prevalence of elevated creatinine levels in children with Down syndrome.
- To compare these findings against expected population values.
Main Methods:
- Retrospective cross-sectional study of 194 children (0-16 years) attending a Down syndrome clinic.
- Creatinine levels analyzed against age- and sex-specific reference ranges.
- Estimated glomerular filtration rate (eGFR) calculated using the Schwartz equation.
Main Results:
- 26.8% of children with DS had creatinine levels above the upper reference limit (p < 0.0001).
- 21.6% exhibited persistently elevated creatinine levels (p < 0.0001).
- 34% of those with height data had an eGFR < 90 mL/min/1.73 m².
Conclusions:
- Children with Down syndrome in this cohort frequently present with creatinine levels above standard paediatric reference ranges.
- The clinical significance of these elevated creatinine levels warrants further investigation.
- This study underscores the need for tailored renal monitoring in pediatric Down syndrome populations.
Aim:
To assess the proportion of children with Down syndrome (DS) with creatinine levels above standard paediatric reference ranges in a single-centre Irish outpatient cohort.
Methods:
We performed a retrospective cross-sectional study of children aged 0-16 years attending the DS Clinic at Children's Health Ireland, Tallaght, between June 2022 and June 2024. Children with known renal disease and acute results were excluded. Creatinine levels were analysed using age- and sex-specific reference ranges. The proportion with creatinine above the upper reference limit was compared with the expected proportion of 2.5% using a one-sided exact binomial test. Estimated glomerular filtration rate (eGFR) was calculated using the bedside Schwartz equation, where height was available.
Results:
A total of 194 patients were included. Among them, 52 (26.8%) had creatinine levels above the upper reference limit (p < 0.0001). Additionally, 42 (21.6%) had persistently elevated creatinine (p < 0.0001). Height was available for 124 children. Of those, 42 (34%) had an eGFR < 90 mL/min/1.73 m2 and 1 (0.8%) had an eGFR < 60 mL/min/1.73 m2.
Conclusion:
Children with DS in this Irish clinic frequently had creatinine levels above standard reference ranges. Further studies are required to clarify the clinical significance of these findings.
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