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

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Abstract

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 (p < 0.001) appearing more frequently in BWSIC2 (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.

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Abbreviations

BWS:

Beckwith–Wiedemann syndrome

GOM:

Gain of methylation

IC:

Imprinting center

IGF2:

Insulin growth factor 2

LOM:

Loss of methylation

UPD:

Uniparental disomy

WT:

Wilms’ tumor

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Acknowledgement

This work was supported by funding from the grants MIUR (Italian Ministry for Education, University and Research) PRIN 2007 (to AR) and ISS526D/35 (to LL). The authors declare that they have no conflict of interest with respect to this article. GBF had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

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The authors declare they have no conflict of interest with respect to this article.

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Authors and Affiliations

  1. Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy

    Alessandro Mussa, Nicoletta Chiesa, Giuseppina Baldassarre, Margherita Silengo & Giovanni Battista Ferrero

  2. Nephrology, Dialysis and Transplantation, Regina Margherita Children Hospital, Torino, Italy

    Licia Peruzzi

  3. Institute of Genetics and Biophysics “A. Buzzati-Traverso”, CNR, Naples, Italy

    Agostina De Crescenzo & Andrea Riccio

  4. Laboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, Milano, Italy

    Silvia Russo & Lidia Larizza

  5. Department of Pediatrics, Federico II University, Naples, Italy

    Daniela Melis

  6. Genetica Clinica, Dipartimento di Pediatria, “Sapienza” Università di Roma, Policlinico Umberto I, Roma, Italy

    Luigi Tarani

  7. Genetica Medica, Dipartimento Medicina, Chirurgia e Odontoiatria, Università di Milano, Milano, Italy

    Lidia Larizza

  8. Department of Environmental Science, Second University of Naples, Caserta, Italy

    Andrea Riccio

Authors
  1. Alessandro Mussa
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  2. Licia Peruzzi
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  3. Nicoletta Chiesa
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  4. Agostina De Crescenzo
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  5. Silvia Russo
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  6. Daniela Melis
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  7. Luigi Tarani
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  8. Giuseppina Baldassarre
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  9. Lidia Larizza
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  10. Andrea Riccio
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  11. Margherita Silengo
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  12. Giovanni Battista Ferrero
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Corresponding author

Correspondence to Giovanni Battista Ferrero.

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As a rule, no approval is required at our Institutions for retrospective studies involving the anonymous review of medical records

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Mussa, A., Peruzzi, L., Chiesa, N. et al. Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome. Pediatr Nephrol 27, 397–406 (2012). https://doi.org/10.1007/s00467-011-2009-4

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  • DOI: https://doi.org/10.1007/s00467-011-2009-4

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