{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T23:47:58Z","timestamp":1767916078769,"version":"3.49.0"},"reference-count":41,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T00:00:00Z","timestamp":1744329600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pathogenic variants in the Wilms\u2019 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 \u00b1 5.1 years (0.3\u201314 years) at their first admission and were treated between 1997\u20132022, were analyzed. The analysis included each patient\u2019s 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\u2019 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.<\/jats:p>","DOI":"10.3390\/ijms26083642","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T06:18:36Z","timestamp":1744611516000},"page":"3642","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology\u2014One Center Practice"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6925-8409","authenticated-orcid":false,"given":"Artur","family":"Janek","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-005X","authenticated-orcid":false,"given":"Andrzej","family":"Bade\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Bade\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martyna","family":"Szuster","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Szyma\u0144ska-Kurek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology with Dialysis Division for Children, Independent Public Clinical Hospital No. 1, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Trembecka-Dubel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6772-1983","authenticated-orcid":false,"given":"Maria","family":"Szczepa\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/ki.2015.198","article-title":"Towards an Understanding of Kidney Diseases Associated with WT1 Mutations","volume":"88","author":"Dong","year":"2015","journal-title":"Kidney Int."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1093\/hmg\/ddl196","article-title":"The many facets of the Wilms\u2019 tumour gene, WT1","volume":"15","author":"Hohenstein","year":"2006","journal-title":"Hum. 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