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Kidney Week

Abstract: TH-PO416

Progressive Kidney Failure: An Overlooked Feature of Down Syndrome

Session Information

Category: CKD (Non-Dialysis)

  • 2101 CKD (Non-Dialysis): Epidemiology, Risk Factors, and Prevention


  • Bokenkamp, Arend, Amsterdam University Medical Center, Amsterdam, Netherlands
  • Chatelion counet, Marieke Mse, Amsterdam University Medical Center, Amstelveen, Netherlands
  • Den bakker, Emil, VUMC, Duivendrecht, Netherlands
  • Weijerman, Michel Emile, Alrijne Hospital, Leiderdorp, Netherlands
  • Pottel, Hans, KULeuven, Kortrijk, Belgium
  • Van der plas, R. N., AUMC, Amsterdam, Netherlands
  • Broers, Chantal J.M., Amsterdam UMC, location VUMC, Amstelveen, Netherlands

Life expectancy of patients with Down syndrome (DS) has increased significantly in the last decades. DS is associated with a fourfold risk of urinary tract abnormalities, still data on renal dysfunction in DS patients are conflicting. The present study was set out to assess kidney function in a large pediatric tertiary DS clinic.


Retrospective analysis of data collected during routine visits at the DS clinic of VU medical center. All patients aged between 2 and 18 years in whom serum creatinine had been measured were eligible for inclusion. Exclusion criteria were glucocorticosteroid use, neuromuscular disease or primary referral to a nephrologist or urologist. Kidney function was assessed using the full-age spectrum equations, i.e. eGFRcrea= (107.3/[sCr (mg/dL)/Q (age- or height-based normal value)]) and eGFRcys= (107.3/sCys (mg/L)/0.82). In a subgroup of 74 patients, a total of 374 serial creatinine measurements were analyzed by linear mixed modelling.


Serum creatinine was available in 189 patients (63% boys), aged 10.8 ± 5.0 years, cystatin C in 143 (64% boys). Mean eGFRcrea was 83.6 ± 16.7 mL/min/1.73m2, mean eGFRcys 87.3 ± 12.0 mL/min/1.73m2. Based on eGFRcrea, 32% of patients had CKD stage 1, 62% stage 2 and 6% stage 3. There was no relation between kidney function and co-morbidity (i.e. celiac disease, congenital heart disease, hypothyroidism and history of leukemia). Serial measurements showed a significant decline of eGFRcrea (slope -2.01ml/min/1.73m2/yr [95%CI -2.99 to -1.04] (p = 0.0001).


Mildly to moderately impaired renal function is a common finding in children with Down syndrome. The progressive loss of GFR is troublesome and calls for regular monitoring of kidney function both in children and in adults with DS to identify potentially treatable risk factors for disease progression such as hypertension and microalbuminuria.

Serial measurements of eGFRcrea