American Journal of Kidney Diseases
Volume 49, Issue 6 , Pages 793-800 , June 2007

Small Glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) Syndrome

  • Karine Dahan, MD

      Affiliations

    • Department of Pathology, Hôpital Necker Enfants Malades, Université Paris V, Paris, France
    • Corresponding Author InformationAddress correspondence to Karine Dahan, MD, Department of Pathology, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
    • ,
  • Maud Kamal, PhD

      Affiliations

    • INSERM U599, Hôpital Henri Mondor, Créteil, France
    • ,
  • Laure Hélène Noël, MD

      Affiliations

    • INSERM U507, Hôpital Necker Enfants Malades, Université Paris V, Paris, France
    • ,
  • Cécile Jeanpierre, PhD

      Affiliations

    • INSERM U574, Hôpital Necker Enfants Malades, Université Paris V, Paris, France.
    • ,
  • Marie Claire Gubler, PhD

      Affiliations

    • INSERM U574, Hôpital Necker Enfants Malades, Université Paris V, Paris, France.
    • ,
  • Nicole Brousse, PhD

      Affiliations

    • Department of Pathology, Hôpital Necker Enfants Malades, Université Paris V, Paris, France
    • ,
  • Natacha Patey Mariaud de Serre, MD

      Affiliations

    • Department of Pathology, Hôpital Necker Enfants Malades, Université Paris V, Paris, France

Received 21 September 2006 ,Accepted 23 February 2007.

References 

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  2. Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the aniridia-Wilms’ tumor association: 11p Interstitial deletion. Pediatrics. 1978;61:604–610
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  9. Little M, Wells C. A clinical overview of WT1 gene mutations. Hum Mutat. 1997;9:209–225
  10. Frasier SD, Bashore RA, Mosier HD. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr. 1964;64:740–745
  11. Moorthy AV, Chesney RW, Lubinsky M. Chronic renal failure and XY gonadal dysgenesis: “Frasier” syndrome—A commentary on reported cases. Am J Med Genet Suppl. 1987;3:S297–S302
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  13. Breslow NE, Takashima JR, Ritchey ML, Strong LC, Green DM. Renal failure in the Denys-Drash and Wilms’ tumor-aniridia syndromes. Cancer Res. 2000;60:4030–4032
  14. Breslow NE, Norris R, Norkool PA, et al. Characteristics and outcomes of children with the Wilms tumor-aniridia syndrome: A report from the National Wilms Tumor Study Group. J Clin Oncol. 2003;21:4579–4585
  15. Breslow NE, Collins AJ, Ritchey ML, Grigoriev YA, Peterson SM, Green DM. End stage renal disease in patients with Wilms tumor: Results from the National Wilms Tumor Study Group and the United States Renal Data System. J Urol. 2005;174:1972–1975
  16. Merta M, Reiterova J, Krkavcova M, Rysava R, Kmentova D, Tesar V. Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. Prague Med Rep. 2004;105:69–73
  17. Malik K, Yan P, Huang TH, Brown KW. Wilms’ tumor: A paradigm for the new genetics. Oncol Res. 2000;12:441–449
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  19. Malik K, Salpekar A, Hancock A, et al. Identification of differential methylation of the WT1 antisense regulatory region and relaxation of imprinting in Wilms’ tumor. Cancer Res. 2000;60:2356–2360
  20. Guo JK, Menke AL, Gubler MC, et al. WT1 is a key regulator of podocyte function: Reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum Mol Genet. 2002;11:651–659
  21. Amor DJ. Morbid obesity and hyperphagia in the WAGR syndrome. Clin Dysmorphol. 2002;11:73–74
  22. Tiberio G, Digilio MC, Giannotti A. Obesity and WAGR syndrome. Clin Dysmorphol. 2000;9:63–64
  23. Natoli TA, Liu J, Eremina V, et al. A mutant form of the Wilms’ tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. J Am Soc Nephrol. 2002;13:2058–2067
  24. Little MH, Williamson KA, Mannens M, et al. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum Mol Genet. 1993;2:259–264
  25. Gubler MC. WT1, a multiform protein (Contribution of genetic models to the understanding of its various functions). J Am Soc Nephrol. 2002;13:2192–2194

 Support: None. Potential conflicts of interest: None.

 Originally published online as doi:10.1053/j.ajkd.2007.02.275 on April 30, 2007.

PII: S0272-6386(07)00522-7

doi: 10.1053/j.ajkd.2007.02.275

American Journal of Kidney Diseases
Volume 49, Issue 6 , Pages 793-800 , June 2007

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