Related Experiment Videos
Hypercalciuria in Beckwith-Wiedemann syndrome
Michael Goldman1, Cheryl Shuman, Rosanna Weksberg
1Division of Nephrology and the Program in Developmental Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
The Journal of Pediatrics
|February 14, 2003
Summary
Hypercalciuria (HC) occurs in 22% of children with Beckwith-Weidemann syndrome (BWS), often linked to kidney complications. Early evaluation for HC is recommended for all children diagnosed with BWS.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Beckwith-Weidemann syndrome (BWS) is a complex overgrowth disorder.
- Renal abnormalities are known complications of BWS.
Purpose of the Study:
- To determine the incidence of hypercalciuria (HC) in patients with BWS.
- To investigate the association between HC and renal complications like nephrocalcinosis and nephrolithiasis in BWS patients.
Main Methods:
- Prospective study of 18 consecutive patients with BWS.
- Collection of random, nonfasting urine samples.
- Abdominal ultrasonography performed on all patients.
Main Results:
- Four out of 18 patients (22%) exhibited hypercalciuria (HC).
- Among those with HC, two had nephrocalcinosis, one had hyperechoic kidneys, and one had normal renal imaging.
- Serum calcium levels were normal in all patients with HC.
Conclusions:
- A significant prevalence of hypercalciuria and associated renal complications exists in children with BWS.
- Routine screening for hypercalciuria is warranted in all pediatric patients diagnosed with Beckwith-Weidemann syndrome.