Is the estimated glomerular filtration rate formula useful for evaluating the renal function of Down syndrome?

Area of Science:

• Pediatric Nephrology
• Genetics
• Growth and Development

Background:

• Children with Down syndrome (DS) exhibit distinct growth patterns compared to typically developing children.
• Accurate assessment of renal function is crucial for managing pediatric health.
• Existing formulas for estimating glomerular filtration rate (eGFR) may not be suitable for children with DS.

Purpose of the Study:

• To evaluate the reliability of Uemura's formula, commonly used for normal Japanese children, in estimating renal function (eGFR) in children with Down syndrome.
• To determine if standard eGFR formulas accurately reflect kidney function in pediatric DS patients.

Main Methods:

• The study included 758 children aged 2-18 years with DS.
• Data from 2421 examinations of 379 children (224 boys, 155 girls) with DS, including height and serum creatinine, were analyzed.
• Exclusion criteria included congenital heart disease, kidney/urinary tract anomalies, chronic glomerulonephritis, and vesicoureteral reflux.

Main Results:

• The mean eGFR was significantly lower in children with DS compared to children without DS.
• 44.6% of examinations indicated Stage II chronic kidney disease, and 0.8% indicated Stage III.
• The correlation between eGFR and age differed by sex, with a weak negative correlation observed in both boys and girls with DS.

Conclusions:

• General formulas for eGFR are inappropriate for children with Down syndrome.
• A new, specialized eGFR formula is required for children with DS, accounting for their unique growth rates and pubertal development.
• Accurate renal function assessment in children with DS necessitates tailored estimation methods.