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Renal involvement in Down syndrome
Serafín Málaga1, Rafael Pardo, Ignacio Málaga
1Division of Pediatric Nephrology of the Department of Pediatrics, Hospital Universitario Central de Asturias, C/ Celestino Villamil sn, 33006, Oviedo (Asturias), Spain. smalaga@hca.es
Pediatric Nephrology (Berlin, Germany)
|March 24, 2005
Summary
Kidney disease is more common in Down syndrome (DS) patients than previously believed, with many experiencing minor renal and urological issues. Regular kidney function monitoring is recommended for early detection of potential chronic renal failure (CRF).
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Kidney disease is often underestimated in Down syndrome (DS) patients.
- Previous reports indicate urological abnormalities and glomerulopathies in this population.
- Some individuals with DS develop chronic renal failure (CRF).
Purpose of the Study:
- To enhance the understanding of renal disease in Down syndrome patients.
- To determine the incidence and spectrum of kidney and urological abnormalities in DS.
- To investigate the prevalence of renal dysfunction in individuals with DS.
Main Methods:
- A cross-sectional study involving 69 Down syndrome patients (12 months to 24 years).
- Review of medical records, 24-hour urine samples, and blood samples.
- Assessment of renal function markers, urinalysis, and renal ultrasound.
Main Results:
- 11.6% had hyperuricemia, 24.2% had hyperuricosuria.
- Mild proteinuria (4.5%) and microscopic hematuria (3%) were observed.
- 4.5% of patients had chronic renal failure (CRF), with minor radiological abnormalities in 7.3%.
Conclusions:
- Renal disease in Down syndrome patients is more prevalent than previously assumed.
- Most detected renal abnormalities are minor, but early detection of CRF is crucial.
- Regular renal function monitoring is advised for Down syndrome patients to prevent irreversible kidney injury.