Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome

AJR Am J Roentgenol. 1998 Sep;171(3):733-7. doi: 10.2214/ajr.171.3.9725306.


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

Materials and 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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Beckwith-Wiedemann Syndrome / complications*
  • Beckwith-Wiedemann Syndrome / epidemiology
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Diagnostic Imaging
  • Female
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Kidney Diseases / complications
  • Kidney Diseases / diagnosis
  • Kidney Diseases / epidemiology*
  • Male
  • Registries
  • Retrospective Studies