Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome

Alessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, Agostina De Crescenzo, Silvia Russo, Daniela Melis, Luigi Tarani, Giuseppina Baldassarre, Lidia Larizza, Andrea Riccio, Margherita Silengo, Giovanni Battista Ferrero

Research output: Contribution to journalArticlepeer-review


Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly (n=24), collecting system abnormalities (n=14), cryptorchidism (n=11), nephrolithiasis (n=5), cysts (n=5), and dysplasia (n=1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWSIC1 group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWSUPD and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWSIC2 had renal findings (p= 0.003). Cryptorchidism was associated with abdominal wall defects (pIC2 (p= 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)397-406
Number of pages10
JournalPediatric Nephrology
Issue number3
Publication statusPublished - Mar 2012


  • Beckwith-Wiedemann
  • Kidney
  • Nephromegaly
  • Renal anomalies
  • Renal dysplasia
  • Wilms

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health


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