Age and gender-specific reference intervals for uric acid level and hyperuricemia in children with Down syndrome

Area of Science:

• Pediatrics
• Genetics
• Clinical Biochemistry

Background:

• The association between Down syndrome (DS) and hyperuricemia is long-established.
• Defining age- and gender-specific uric acid (UA) reference values for children with DS is essential for accurate hyperuricemia diagnosis.

Purpose of the Study:

• To establish age- and gender-specific reference uric acid (UA) values for children with Down syndrome (DS).
• To determine the prevalence of hyperuricemia in children with DS and identify associated factors.

Main Methods:

• Analysis of laboratory data from 238 children (140 males, 98 females) with DS under 21 years of age.
• Exclusion of 14 patients already diagnosed and treated for hyperuricemia.
• Calculation of reference UA levels based on age and gender, and investigation of correlations with other clinical and laboratory findings.

Main Results:

• Children with DS exhibited significantly higher UA levels compared to the general population across all age groups.
• Newly established reference values identified 55 patients with hyperuricemia, with prevalence rates of 25.0% in males and 20.4% in females.
• UA levels correlated with hemoglobin, creatinine, and total bilirubin, suggesting a link with dehydration in children with DS. Hyperuricemia cases increased notably after age 10.

Conclusions:

• The established reference UA levels provide a basis for evaluating hyperuricemia in children with DS.
• These findings highlight the need for careful monitoring and potential treatment with uric-acid-lowering drugs for children with DS and hyperuricemia.