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Volume 12
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10.3390/children12050595
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Case Report

WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance

by
Mariana Costin
1,2,
Eliza Elena Cinteză
1,3,
Anca Croitoru
1,2,*,
Ionela-Loredana Popa
1,2,
Alexandra Stanciu
2,
Irina Popescu
4,
Nicoleta Petre
5,
Bettyna Olivotto
6,
Andrei Căpitănescu
6,
Sofia Resceanu
2,
Elena Cotfasa
2 and
Cristina Bologa
2
1
Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, Romania
2
Department of Pediatric Nephrology, “M.S. Curie” Emergency Clinical Hospital for Children, 077120 Bucharest, Romania
3
Department of Pediatric Cardiology, “M.S. Curie” Emergency Clinical Hospital for Children, 077120 Bucharest, Romania
4
Department of Pediatric Radiology, “M.S. Curie” Emergency Clinical Hospital for Children, 077120 Bucharest, Romania
5
Clinical Hospital of Nephrology “Dr. Carol Davila”, 010731 Bucharest, Romania
6
Department of Dialysis, “M.S. Curie” Emergency Clinical Hospital for Children, 077120 Bucharest, Romania
*
Author to whom correspondence should be addressed.
Children 2025, 12(5), 595; https://doi.org/10.3390/children12050595
Submission received: 20 March 2025 / Revised: 27 April 2025 / Accepted: 29 April 2025 / Published: 2 May 2025
(This article belongs to the Section Pediatric Nephrology & Urology)
Versions Notes

Abstract

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–Drash 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>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.
Keywords: Frasier syndrome (FS); Denys–Drash syndrome (DDS); end-stage kidney disease (ESKD); thrombotic microangiopathy (TMA); focal segmental glomerulosclerosis (FSGS); Wilms Tumor 1 (WT1) Frasier syndrome (FS); Denys–Drash syndrome (DDS); end-stage kidney disease (ESKD); thrombotic microangiopathy (TMA); focal segmental glomerulosclerosis (FSGS); Wilms Tumor 1 (WT1)

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MDPI and ACS Style

Costin, M.; Cinteză, E.E.; Croitoru, A.; Popa, I.-L.; Stanciu, A.; Popescu, I.; Petre, N.; Olivotto, B.; Căpitănescu, A.; Resceanu, S.; et al. WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance. Children 2025, 12, 595. https://doi.org/10.3390/children12050595

AMA Style

Costin M, Cinteză EE, Croitoru A, Popa I-L, Stanciu A, Popescu I, Petre N, Olivotto B, Căpitănescu A, Resceanu S, et al. WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance. Children. 2025; 12(5):595. https://doi.org/10.3390/children12050595

Chicago/Turabian Style

Costin, Mariana, Eliza Elena Cinteză, Anca Croitoru, Ionela-Loredana Popa, Alexandra Stanciu, Irina Popescu, Nicoleta Petre, Bettyna Olivotto, Andrei Căpitănescu, Sofia Resceanu, and et al. 2025. "WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance" Children 12, no. 5: 595. https://doi.org/10.3390/children12050595

APA Style

Costin, M., Cinteză, E. E., Croitoru, A., Popa, I.-L., Stanciu, A., Popescu, I., Petre, N., Olivotto, B., Căpitănescu, A., Resceanu, S., Cotfasa, E., & Bologa, C. (2025). WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance. Children, 12(5), 595. https://doi.org/10.3390/children12050595

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