Abstract: FR-PO0914
Kidney Disease in WAGR Spectrum Disorder: A Patient Registry-Based Analysis
Session Information
- Pediatric Nephrology: Genetic Diseases, Development, Neonatal Nephrology, Glomerular Diseases, and More
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1800 Pediatric Nephrology
Authors
- George, Rohit, The University of Texas Southwestern Medical Center, Dallas, Texas, United States
- Trout, Kelly L., International WAGR Syndrome Association, Montgomery Village, Maryland, United States
- Morris, John, International WAGR Syndrome Association, Montgomery Village, Maryland, United States
- Gattineni, Jyothsna, The University of Texas Southwestern Medical Center, Dallas, Texas, United States
- Drake, Keri A., The University of Texas Southwestern Medical Center, Dallas, Texas, United States
Background
WAGR Spectrum Disorder (WSD) is a rare genetic syndrome caused by contiguous gene deletions at 11p13 characterized by Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability. Given its prevalence of 1 in 500,000 to 1 million, the International WAGR Syndrome Association Patient Registry provides a valuable resource to understand the unique health considerations for these patients. Here, we provide an up-to-date analysis of renal complications reported in the registry to inform clinical considerations for patients with this ultra-rare disease.
Methods
Patient-reported data from 197 participants included demographics, Wilms tumor history, and renal diagnoses including structural anomalies, proteinuria, hypertension, focal segmental glomerulosclerosis (FSGS), as well as chronic kidney disease (CKD) and associated risk factors including preterm birth and obesity.
Results
Average participant age is 14.4 years, ranging from after birth to 50, with 10 individuals (7%) reporting renal cysts. Adjusting for missing data, 68 individuals (46%) report a history of Wilms tumor, including 7 patients requiring dialysis and/or transplant, with additional findings shown in Fig. 1 and CKD by age in Fig. 2.
Conclusion
Despite the limitations of this registry analysis, this report identifies clinically significant renal complications, including hypertension, proteinuria/FSGS, and CKD (both in patients with and without a history of Wilms tumor), suggesting patients with WSD may be uniquely predisposed to developing long-term renal complications. Additionally, the small but not insignificant number of transplant recipients underscores the need for specialized, multidisciplinary care to address the unique challenges in this population. Overall, these findings advocate for lifelong, proactive renal surveillance and the development of specific management guidelines for patients with WSD.