{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:55:12Z","timestamp":1791320112028,"version":"4.3.1"},"reference-count":23,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:00:00Z","timestamp":1746144000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>WT1-related disorders comprise a spectrum of conditions resulting from mutations or deletions of the WT1 gene. Alteration in this gene have been associated with many syndromes, including WAGR syndrome, Denys\u2013Drash syndrome (DDS), Frasier syndrome (FS) and Meacham syndrome. We present the case of an 8-year-old phenotypically female child with symptoms of end-stage kidney disease (ESKD), hypertension and anasarca, requiring renal replacement therapy. This case is distinctive due to its unusual onset, the presence of thrombotic microangiopathy (TMA), and the detection of a heterozygous missense mutation in the WT1 gene (c.1298G&gt;A, p.Cys433Tyr) located in exon 8, in association with a 46 XY karyotype. The kidney biopsy indicated advanced focal segmental glomerulosclerosis (FSGS) with characteristics of TMA, implying a possible alternative diagnosis. In light of the heightened malignancy risk, the patient had preventative laparoscopic gonadectomy, which revealed rudimentary testicular tissues. The identified genotype points toward a diagnosis of DDS. However, the clinical presentation is more consistent with features typically seen in FS. This discrepancy highlights the significant phenotypic and genotypic overlap between the two syndromes. As a result, there is ongoing discussion in the literature about whether DDS and FS should be considered distinct clinical entities or rather variable expressions along a shared disease spectrum.<\/jats:p>","DOI":"10.3390\/children12050595","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T08:28:11Z","timestamp":1746174491000},"page":"595","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance"],"prefix":"10.3390","volume":"12","author":[{"given":"Mariana","family":"Costin","sequence":"first","affiliation":[{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliza Elena","family":"Cintez\u0103","sequence":"additional","affiliation":[{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Department of Pediatric Cardiology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4223-5024","authenticated-orcid":false,"given":"Anca","family":"Croitoru","sequence":"additional","affiliation":[{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ionela-Loredana","family":"Popa","sequence":"additional","affiliation":[{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Stanciu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoleta","family":"Petre","sequence":"additional","affiliation":[{"name":"Clinical Hospital of Nephrology \u201cDr. Carol Davila\u201d, 010731 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettyna","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Department of Dialysis, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"C\u0103pit\u0103nescu","sequence":"additional","affiliation":[{"name":"Department of Dialysis, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Resceanu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Cotfasa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Bologa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Turner, J., and Dome, J. (2021). DENYS\u2013DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME (WT1-RELATED DISORDERS). Cassidy and Allanson\u2019s Management of Genetic Syndromes, John Wiley & Sons. [4th ed.].","DOI":"10.1002\/9781119432692.ch23"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s00467-009-1343-2","article-title":"Frasier syndrome, a potential cause of end-stage renal failure in childhood","volume":"25","author":"Bache","year":"2010","journal-title":"Pediatr. Nephrol."},{"key":"ref_3","first-page":"130","article-title":"Frasier syndrome: Ambiguous genitalia and end-stage chronic kidney disease in childhood. 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