eMedicine Specialties > Pediatrics: General Medicine > Oncology
WAGR Syndrome: Differential Diagnoses & Workup
Updated: Oct 2, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Denys-Drash Syndrome
Genital Anomalies
Wilms Tumor
Other Problems to Be Considered
Frasier syndrome
Aniridia
Workup
Laboratory Studies
- BUN and/or creatinine levels should be assessed in patients with Wilms tumor, aniridia, GU abnormalities, and mental retardation (WAGR) syndrome.
- Renal function is rarely affected by nephroblastomatosis alone.
- GU abnormalities may lead to reduced renal function early in life.
- Findings of protein in the urine should alert the clinician to the possibility of Denys-Drash or Frasier syndromes, which are associated with declining renal function. Blood may be present in the urine when patients present with a Wilms tumor.
- A CBC count with a platelet count may demonstrate anemia due to blood loss secondary to an enlarging renal mass.
- Serum calcium levels should be measured.
- Cytogenetic testing should be performed to confirm the diagnosis. Standard high-resolution chromosome studies may not be able to detect deletions in WT1. The addition of molecular cytogenetic fluorescence in situ hybridization techniques may define the extent of the deletion.
Imaging Studies
- Renal ultrasonography is the study of choice to confirm the diagnosis of renal pathology in the neonatal period.
- Enlargement of the kidneys usually suggests nephroblastomatosis. The appearance of both kidneys should be documented.
- Some (internal) GU abnormalities are usually best documented using ultrasonography, although additional imaging tests may be required.
- A follow-up examination of the kidneys should be performed every 3 months until the patient is aged 7 years. Physical examinations should be performed every 6 months until the patient's growth is complete. Baseline CT scanning may be indicated at the time of the initial diagnosis.
- The presence of an enlarging renal mass suggests the development of a Wilms tumor.
- Evaluation of the renal vein and inferior vena cava for the presence of tumor thrombi is important for staging, and the study is usually accomplished using renal ultrasonography and/or Doppler imaging.
- Chest radiography becomes important in the staging workup once Wilms tumor is diagnosed.
- CT scanning of the chest and abdomen may provide further information about the location and stage of the tumor.
Procedures
- The role of a renal biopsy at the time of diagnosis of WAGR syndrome in the neonatal period is controversial.
- The presence of nephrogenic rests can be demonstrated histologically, but the risk of losing renal function as a result of the procedure may outweigh the need to confirm the diagnosis in a patient with AGR syndrome.
- Transcutaneous renal biopsy has no role in the diagnosis of a Wilms tumor.
Histologic Findings
- Biopsy findings of kidneys that contain nephrogenic rests or nephroblastomatosis reveal nests of developmentally immature renal parenchyma.
- Although these rests may be stable over a long period, they generally (1) die and produce a hyalinized remnant, (2) mature into normal renal parenchyma, or (3) produce a Wilms tumor.
More on WAGR Syndrome |
| Overview: WAGR Syndrome |
 Differential Diagnoses & Workup: WAGR Syndrome |
| Treatment & Medication: WAGR Syndrome |
| Follow-up: WAGR Syndrome |
| Multimedia: WAGR Syndrome |
| References |
| « Previous Page | Next Page » |
References
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].
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].
Breslow N, Olshan A Beckwith JB. Epidemiology of Wilms tumor. Med Ped Oncol. 1993;21:172-181.
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].
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].
Knudson AG, Strong LC. Mutation and cancer: a model for Wilms tumor of the kidney. J Natl Cancer Inst. Feb 1972;48:313-324.
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.
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.
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.
Beckwith JB. Precursor lesions of Wilms tumor: clinical and biological impications. Med Pediatr Oncol. 1993;21:158-168.
Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics. Oct 2005;116:984-988.
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.
Further Reading
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
