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WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center
Artur Janek1, Andrzej Badeński1, Marta Badeńska1
1Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
Insights
Pathogenic variants in the Wilms' tumor suppressor gene 1 (WT1) cause kidney and urogenital disorders. An interdisciplinary approach with early diagnosis and monitoring improves outcomes for affected children.
Area of Science:
- Nephrology
- Genetics
- Pediatric Medicine
Background:
- Pathogenic variants in the Wilms' tumor suppressor gene 1 (WT1) are associated with significant kidney and urogenital disorders, including chronic kidney disease.
- Optimal management strategies for WT1 dysfunction remain uncertain, presenting challenges for clinicians.
- WT1 gene mutations impact kidney development and function, necessitating specialized care.
Purpose of the Study:
- To present clinical experiences and treatment outcomes of patients with confirmed WT1 pathogenic variants.
- To highlight the importance of an interdisciplinary approach in managing WT1-related disorders.
- To emphasize the need for continued research into WT1 gene disorders.
Main Methods:
- Retrospective analysis of data from seven pediatric patients (1997-2022) with confirmed WT1 pathogenic variants.
- Inclusion of patient demographics, age at diagnosis, anthropometric data, comorbidities, laboratory results, and genetic findings.
- Detailed review of treatment regimens, including medications, oncological procedures, and surgical interventions.
Main Results:
- Wilms' tumor was the initial manifestation in three patients; three had arterial hypertension, and four had anemia.
- Treatment for nephrotic syndrome involved glucocorticosteroids (GCS), calcineurin inhibitors (CNIs), and mycophenolate mofetil (MMF).
- Five patients underwent nephrectomy, and two received kidney transplants.
Conclusions:
- An interdisciplinary approach, encompassing early diagnosis, individualized treatment, and vigilant monitoring, is crucial for improving prognosis in WT1-related nephrological disorders.
- Oncological vigilance and regular follow-up are essential for patients with WT1 gene variants.
- Further research is vital for a comprehensive understanding and development of effective therapies for WT1 gene disorders.
Abstract:
Pathogenic variants in the Wilms' tumor suppressor gene 1 (WT1 gene) can lead to serious disorders within the kidney and urogenital system, including chronic kidney disease. There is still much uncertainty regarding the optimal management of diseases caused by WT1 dysfunction, posing a challenge for physicians caring for these patients. The aim of our study is to present experiences related to the course and treatment of patients with confirmed WT1 pathogenic variants. Data from seven patients (five girls, two boys), who were at the age of 4.8 ± 5.1 years (0.3-14 years) at their first admission and were treated between 1997-2022, were analyzed. The analysis included each patient's age at the day of diagnosis, anthropometric measurements, comorbidities, and laboratory and genetic test results, as well as their treatment, oncological procedures, and performed surgeries. Wilms' tumor was the first manifestation of the disease in three patients. Arterial hypertension was diagnosed in three patients, and anemia in four. Treatment of patients with nephrotic syndrome included glucocorticosteroid therapy (GCS), calcineurin inhibitors (CNIs), and mycophenolate mofetil (MMF). Nephrectomy was performed in five children, while kidney transplantation was carried out in two patients. An interdisciplinary approach to WT1 gene pathogenic variants, including early diagnosis, individualization, regular monitoring of treatment, and oncological vigilance, is crucial for improving prognosis and ensuring proper care for patients with nephrological manifestations of WT1 gene region disorders. Furthermore, for a comprehensive understanding of the scope of this disease and the development of effective therapy methods, continued research on the clinical manifestations of WT1 pathogenic variants is essential.
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