Widespread kidney anomalies in children with Down syndrome

Abstract

Background Rare autopsy studies have described smaller kidneys as well as urinary tract anomalies in Down syndrome. This observation has never been investigated in vivo and little is known about the possible consequences upon kidney function.Here we wish to confirm whether children with Down syndrome have smaller kidneys and to evaluate their kidney function in vivo. Methods This retrospective cohort study enrolled 49 children with Down syndrome, as well as 49 age-and sex-matched controls at the Queen Fabiola Children's University Hospital in Brussels, Belgium. Doppler and kidney ultrasonography, spot urine albumin to creatinine ratio, estimated glomerular filtration rate (eGFR), and anthropometric data were recorded. Results Kidney size in children with Down syndrome was smaller than age-and sex-matched controls in terms of length (p < 0.001) and volume (p < 0.001). Kidney function based on eGFR was also decreased in Down syndrome compared to historical normal. Twenty-one of the children with Down syndrome (42%) had eGFR < 90 mL/min/1.73 m 2 , with 5 of these (10%) having an eGFR < 75 mL/min/1.73 m 2 . In addition, 7 of the children with Down syndrome (14%) had anomalies of the kidney and/or urinary tract that had previously been undiagnosed. Conclusions Children with Down syndrome have significantly smaller kidneys than age-matched controls as well as evidence of decreased kidney function. These findings, in addition to well-noted increased kidney and urologic anomalies, highlight the need for universal anatomical and functional assessment of all individuals with Down syndrome.

Navigating a Complex Presentation: Management of Hypernatremic Dehydration, Acute Kidney Injury, Hyperkalemia, and Metabolic Acidosis in a Patient With Down Syndrome: A Case Report

“…A small study in Japan revealed that kidney function in children with Down syndrome is 80% of average Japanese children their age suggesting that children with Down syndrome have less effective kidneys due to less functioning gromeruli or smaller kidneys [5]. Another retrospective cohort study conducted in Belgium showed similar results regarding kidney size and function with an estimated glomerular filtration rate that was decreased compared to normal limits (42%), with 14% having undiagnosed renal or urinary tract anomalies which may have contributed to their kidney function status [6]. Regarding malnutrition and decreased oral intake, a questionnaire administered to 47 normal developing children and 17 children with Down syndrome showed that children with Down syndrome tend to have more feeding difficulties [7], putting them at risk for dehydration and associated electrolyte abnormalities.…”

CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood

“…The spectrum of CAKUT prevalent in patients with chromosomal abnormalities is well established, with vesicoureteral reflux and lower urinary tract obstruction being predominant [ 10 ]. In addition to CAKUT, a recent report revealed that children with Down syndrome have smaller kidneys and decreased glomerular filtration rate compared to age-matched controls [ 32 ].…”

Long-Term Non-Congenital Cardiac and Renal Complications in Down Syndrome: A Study of 32,936 Patients

“…DS patients exhibit several congenital renal abnormalities that increase susceptibility to long-term kidney disease [5]. Compared to age-matched controls, children with DS exhibit significantly smaller kidney size as well as evidence of impaired renal function [6].…”

“…DS patients exhibit several congenital renal abnormalities that increase susceptibility to long-term kidney disease [ 5 ]. Compared to age-matched controls, children with DS exhibit significantly smaller kidney size as well as evidence of impaired renal function [ 6 ]. While historically thought to be at low risk for kidney disease, research now suggests nephropathy and other renal/urinary tract complications in DS may be under-recognized.…”