eMedicine Specialties > Pediatrics: General Medicine > Oncology

WAGR Syndrome: Follow-up

Author: Steven K Bergstrom, MD, Assistant to the Chairman, Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland
Contributor Information and Disclosures

Updated: Oct 2, 2009

Follow-up

Further Outpatient Care

  • Oncologic follow-up care: After initial evaluation and treatment, the long-range plan for children with Wilms tumor, aniridia, GU abnormalities, and mental retardation (WAGR) syndrome is regular follow-up.
    • Abdominal ultrasonography should be performed every 3 months to examine the kidneys for the development of a Wilms tumor. The age at which these tests may be discontinued has not been established, although the general recommendation is to continue until the patient is aged 7 years.
    • In a report of a cohort of 61 patients with WAGR syndrome, the oldest patient in whom Wilms tumor developed was aged 7 years 3 months.10 Of the patients in whom tumors ultimately developed, 98% received the diagnosis before their seventh birthday. Reports of patients with AGR syndrome who develop Wilms tumor later in life, one of whom developed Wilms at age 25 years, suggest that further follow-up, by either physical examination or ultrasonography, may be recommended for older patients.
  • Ophthalmologic follow-up care: Patients with WAGR syndrome require routine ophthalmologic follow-up, both to evaluate and maximize their vision and to detect glaucoma or cataracts.
  • Nephrologic follow-up care: Patients with WAGR syndrome appear to have an increased risk of renal failure, which develops over many years.
    • Long-term follow-up should include a regular evaluation of renal function with urinalysis and assessment of blood pressure and BUN and creatinine levels. Renal ultrasonography should be considered if abnormalities are suspected. Rare WAGR patients may develop focal segmental glomerular sclerosis with or without the development of Wilms tumor.
    • Patients with Denys-Drash and Frasier syndromes have long been known to be at an increased risk for renal failure.
    • The NWTS found that the incidence of renal failure is 38% in patients with aniridia and Wilms tumor, compared with only 21 cases in 5358 patients without characteristic congenital GU abnormalities.2
    • In one cohort of 54 patients with WAGR syndrome, 14 patients had some level of renal failure.11 This suggests that renal failure is not only related to the loss of kidney tissue in these patients. Some of them had focal segmental glomerular sclerosis (FSGS) unrelated to the development of Wilms tumor. A recent study reported small glomeruli in patients with WAGR syndrome, suggesting that, in some cases, a structural explanation for the eventual appearance of end-stage renal disease is noted.12
    • The underlying reason for renal dysfunction may be multifactorial.

Prognosis

  • Patients with WAGR syndrome have an excellent prognosis for long-term survival. Morbidity and mortality associated with late development of renal failure may be more significant than Wilms tumor.
  • Life-limiting abnormalities include GU anomalies in the first year of life.
  • Lifelong disabilities may include vision loss and mental retardation.
  • In the approximately 30% of patients with AGR syndrome in whom a Wilms tumor develops, the prognosis is related to the histologic features and the stage of the tumor.
  • Early detection seems to improve the outcome.

Miscellaneous

Medicolegal Pitfalls

  • The main problem for caregivers of patients with Wilms tumor, aniridia, GU abnormalities, and mental retardation (WAGR) syndrome is infrequent or inappropriate follow-up.
  • The failure to perform screening at the recommended intervals and, thus, the failure to diagnose a Wilms tumor in a timely fashion, could lead to a more complicated course and to medicolegal difficulties.
 


More on WAGR Syndrome

Overview: WAGR Syndrome
Differential Diagnoses & Workup: WAGR Syndrome
Treatment & Medication: WAGR Syndrome
Follow-up: WAGR Syndrome
Multimedia: WAGR Syndrome
References
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References

  1. Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med. Aug 2008;359:918-927. [Medline].

  2. D'Angio GJ, Breslow N, Beckwith JB, et al. Treatment of Wilms' tumor. Results of the Third National Wilms' Tumor Study. Cancer. Jul 15 1989;64(2):349-60. [Medline].

  3. Breslow N, Olshan A Beckwith JB. Epidemiology of Wilms tumor. Med Ped Oncol. 1993;21:172-181.

  4. Robinson DO, Howarth RJ, Williamson KA, van Hyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. Mar 2008;164A:558-569. [Medline].

  5. Termine C, Parigi G, Rossi M, Romano P, Balotin U. WAGR syndrome: is the 'R' always justified?. Clin Dysmorphol. Jan 2007;16:69-70. [Medline].

  6. Knudson AG, Strong LC. Mutation and cancer: a model for Wilms tumor of the kidney. J Natl Cancer Inst. Feb 1972;48:313-324.

  7. Call KM, Glaser T, Ito CY. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. Feb 1990;60:509-520.

  8. Ton CCT, Hirvonen H, Miwa H. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991;67:1059-1074.

  9. Haber DA,. Oshn RL, Buckler AJ. Alternative splicing and alternative structure of the Wilms tumor gene WT1. Proc Natl Acad Sci USA. 1991;88:9618-9622.

  10. Beckwith JB. Precursor lesions of Wilms tumor: clinical and biological impications. Med Pediatr Oncol. 1993;21:158-168.

  11. Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics. Oct 2005;116:984-988.

  12. Dahan K, Kamal M, Noel LH, Jeanpierre C, Gubler MC, Brousse N, et al. Small glomeruli in WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome. Am J Kidney Dis. June 2007;49:522-527.

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Further Reading

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Keywords

Wilms tumor, aniridia, genitourinary malformations, mental retardation, Wilms' tumor, adenomyosarcoma, embryoma of the kidney, mesoblastic nephroma, nephroblastoma, genitourinary malformations, GU malformations, WAGR syndrome, AGR syndrome, glaucoma, cataracts, cryptorchidism, hypospadias, renal malformations, ureteral malformations, streak ovaries, bicornuate uterus, pseudohermaphroditism, Denys-Drash syndrome, nephromegaly, hematuria, hypertension, varicocele, scanning nystagmus, Frasier syndrome, nephroblastomatosis 

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Contributor Information and Disclosures

Author

Steven K Bergstrom, MD, Assistant to the Chairman, Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland
Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology
Disclosure: Nothing to disclose.

Medical Editor

Stephan A Grupp, MD, PhD, Director, Stem Cell Biology Program, Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania
Stephan A Grupp, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Timothy P Cripe, MD, PhD, Professor of Pediatric Hematology/Oncology, University of Cincinnati; Director, Translational Research Trials Office, Department of Pediatrics, Cincinnati Children's Hospital Medical Center
Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Senior Vice President, Children's National Medical Center (Center for Cancer and Blood Disorders); Director, Center for Cancer and Immunology Research, Children's Research Institute, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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