Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome.
OBJECTIVE
The objective of this retrospective review was to determine the incidence and spectrum of nonmalignant renal disease in patients with Beckwith-Wiedemann syndrome.


METHODS
Patient records were obtained from the Beckwith-Wiedemann Registry of the National Cancer Institute. Imaging findings and medical records of 152 neonates, infants, children, and adults with Beckwith-Wiedemann syndrome (age range, 1 day to 30 years old; median age, 1 year 3 months old) were retrospectively reviewed by three radiologists. Available pathologic material also was reviewed.


RESULTS
Thirty-eight (25%) of 152 patients with Beckwith-Wiedemann syndrome had 45 nonmalignant renal abnormalities, including medullary renal cysts (n = 19, 13%), caliceal diverticula (n = 2, 1%), hydronephrosis (n = 18, 12%), and nephrolithiasis (n = 6, 4%). Thirty-three (87%) of the 38 patients with nonmalignant renal disease were asymptomatic. Clinical manifestations of the remaining five patients included urinary tract infections (n = 4) and flank pain due to obstructive stone disease (n = 1). Nonmalignant renal disease was mistaken for Wilms' tumor in two patients, resulting in unnecessary nephrectomies. Seven children (18%) had Wilms' tumor and nonmalignant renal disease.


CONCLUSIONS
Nonmalignant renal abnormalities occur in approximately 25% of patients with Beckwith-Wiedemann syndrome but are generally asymptomatic. Nonmalignant renal abnormalities should be considered in the differential diagnosis of a mass revealed during screening sonography of a patient with Beckwith-Wiedemann syndrome to avoid unnecessary surgery.
Choyke
P L
PL
Department of Radiology, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
Siegel
M J
MJ
Oz
O
O
Sotelo-Avila
C
C
DeBaun
M R
MR
D000293:Adolescent; D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D008297:Male; D012042:Registries; D012189:Retrospective Studies