Abstract: TH-PO0622
Uncovering the Truth: Genetic Testing Reshapes Pediatric Diagnosis and Treatment
Session Information
- Monogenic Kidney Diseases: Glomerular
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- Barbera, Andrew Jason, University of Alabama at Birmingham, Birmingham, Alabama, United States
- Hendricks, Emily, Natera, Inc., Austin, Texas, United States
- Deyo, Jennifer, Natera, Inc., Austin, Texas, United States
- Deville, Kyle A, University of Alabama at Birmingham, Birmingham, Alabama, United States
Introduction
Wiskott Aldrich Syndrome (WAS) is a rare X-linked recessive genetic disorder caused by pathogenic variants in the WAS gene. Typically presenting during infancy, WAS is characterized by a classic triad of thrombocytopenia, eczema, and immune deficiency, with a varying disease severity and clinical course that can be complicated by other autoimmune disorders such as IgA Nephropathy. Renal involvement in WAS-related disorders has become increasingly recognized over the past two decades although it was once considered rare. Here we present a case of a child with treatment-resistant Immune Thrombocytopenic Purpura (ITP), known as refractory ITP, who was diagnosed with WAS after undergoing genetic testing with a broad renal gene panel (the RensightTM test; Natera, Austin, TX) for further workup of concurrent nephrotic syndrome.
Case Description
A 2-year-old male with a history of refractory ITP developed new-onset nephrotic syndrome in the setting of the immunosuppression given for ITP. Kidney biopsy, which is generally recommended for immunosuppression resistant nephrotic syndrome, was not possible due to bleeding concerns from chronic thrombocytopenia. Genetic testing was subsequently performed and identified a pathogenic variant in WAS.
Discussion
In this case, genetic diagnosis of WAS identified the underlying cause of the patient’s refractory ITP, leading directly to changes in treatment. As ITP is most often triggered by common infections and medications, WAS diagnosis was not initially suspected and may not have been diagnosed without genetic testing. Following the patient’s diagnosis, treatment changed to a more aggressive immunosuppression regimen followed by bone marrow transplant (BMT), which is the only curative targeted therapy clinically available for patients diagnosed with WAS. However, the patient's post-transplant condition was not reported to be favorable. This case highlights the vital role of broad genetic testing in diagnosing pediatric renal disease and its potential to guide treatment.