WAGR Syndrome Treatment & Management

Updated: Oct 21, 2022
  • Author: Jacquelyn N Crane, 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 intellectual disability (AGR) syndrome or Wilms tumor, aniridia, GU abnormalities, and  intellectual disability (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 children, and the geneticist can consult with patients regarding the risks to their children.

  • 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.

If a Wilms tumor develops, multidisciplinary planning is required prior to surgery.

The National Wilms Tumor Studies (NWTS) and Children's Oncology Group Studies have demonstrated that preservation of renal parenchyma is possible following initial preoperative chemotherapy in patients with unilateral Wilms with WAGR or other underlying genetic predisposition syndromes or with bilateral Wilms. [22, 14]  Specifically, a report of patients with bilateral Wilms, including patients with WAGR, treated on the AREN0534 study through the Children's Oncology Group showed that pre-operative chemotherapy, surgical resection within 12 weeks of diagnosis, and post-operative chemotherapy based on histology resulted in improved preservation of renal parenchyma compared patients treated on the earlier NWTS trials. [14]  Further investigation is required to determine the need for earlier biopsy in nonresponsive tumors and earlier definitive surgery in patients with unfavorable histology.

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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. [23] On the basis of the findings from this evaluation, children with vision impairment and mental retardation can be appropriately referred to community resources.

A pediatric oncologist should be consulted if there are any concerns for Wilms Tumor development based on symptoms or on the routine surveillance abominal ultrasounds.

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