Janek Artur, Badeński Andrzej, Badeńska Marta, Szuster Martyna, Szymańska-Kurek Karolina, Trembecka-Dubel Elżbieta, Szczepańska Maria
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
Department of Pediatric Nephrology with Dialysis Division for Children, Independent Public Clinical Hospital No. 1, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
Int J Mol Sci. 2025 Apr 11;26(8):3642. doi: 10.3390/ijms26083642.
Pathogenic variants in the Wilms' tumor suppressor gene 1 ( 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 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 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 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 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 pathogenic variants is essential.
肾母细胞瘤抑癌基因1（WT1基因）的致病性变异可导致肾脏和泌尿生殖系统出现严重疾病，包括慢性肾病。关于WT1功能障碍所致疾病的最佳管理仍存在诸多不确定性，这给照料这些患者的医生带来了挑战。我们研究的目的是介绍确诊为WT1致病性变异患者的病程及治疗相关经验。分析了7例患者（5名女孩，2名男孩）的数据，他们首次入院时年龄为4.8±5.1岁（0.3 - 14岁），治疗时间为1997年至2022年。分析内容包括每位患者诊断当天的年龄、人体测量数据、合并症、实验室及基因检测结果，以及他们的治疗、肿瘤治疗程序和所做的手术。肾母细胞瘤是3例患者疾病的首发表现。3例患者诊断为动脉高血压，4例患者诊断为贫血。肾病综合征患者的治疗包括糖皮质激素治疗（GCS）、钙调神经磷酸酶抑制剂（CNIs）和霉酚酸酯（MMF）。5名儿童接受了肾切除术，2例患者接受了肾移植。对于WT1基因致病性变异采用多学科方法，包括早期诊断、个体化、定期治疗监测和肿瘤学警惕，对于改善预后和确保对有WT1基因区域疾病肾脏表现患者的恰当护理至关重要。此外，为全面了解该疾病的范围并开发有效的治疗方法，持续研究WT1致病性变异的临床表现至关重要。
