WAGR Syndrome Treatment & Management

Updated: Sep 12, 2018
  • Author: Steven K Bergstrom, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Treatment

Medical Care

Treatment considerations include the following:

  • Urology: After aniridia, GU abnormalities, and mental retardation (AGR) syndrome or Wilms tumor aniridia, GU abnormalities, and mental retardation (WAGR) syndrome is diagnosed, GU abnormalities must be evaluated immediately, and the patient should be referred to a pediatric urologist.

  • Genetics: Although the abnormality associated with WAGR syndrome may not be demonstrated by means of routine cytogenetic tests, the geneticist can help in assessing the 11p13 region using fluorescent in situ hybridization techniques. He or she can consult with the family regarding the likelihood of their having other affected offspring, and the geneticist can consult with patients regarding the risks to their offspring.

  • Oncology: Once a Wilms tumor is diagnosed in a patient with WAGR syndrome, the services of a pediatric oncologist are required for treatment and follow-up.

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Surgical Care

Specific urologic intervention may be required early in patients with AGR syndrome. However, if a Wilms tumor develops, a multidisciplinary approach is required prior to surgery.

One study reviewed data on patients with bilateral Wilms tumors (BWT) treated according to the National Wilms Tumor Study-4. The results demonstrated that preservation of renal parenchyma is possible following initial preoperative chemotherapy. An increased incidence of end-stage renal failure was shown, even in patients who did not have bilateral nephrectomies. Further investigation is required to determine the need for earlier biopsy in nonresponsive tumors and earlier definitive surgery in patients with unfavorable histology. [16]

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Consultations

A pediatric ophthalmologist should be consulted early in the course of the disease to evaluate the ocular deformity, and this ophthalmologist should follow-up with the patient for long-term consequences (eg, vision loss, potential cataract development).

The potential for developmental delay in children with AGR or WAGR syndrome requires early evaluation and intervention by a pediatric developmental specialist. [17] On the basis of the findings from this evaluation, children with vision impairment and mental retardation can be appropriately referred to community resources.

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