Abstract
A 6-year-old boy was diagnosed with chromosomal abnormalities (48,XYY, + 21[11]/46,XY[19]) at 4 months of age after a physical examination revealed an undescended testis and a dwarf penis. He also had mild renal dysfunction and severe proteinuria, and kidney biopsy at 2 years of age revealed focal segmental glomerulosclerosis. Genetic analysis to investigate suspected WT1 gene abnormalities revealed a novel variant in NM_024426.6:exon10:c.1506 T > A (p.(Asp502Glu)). His kidney function deteriorated rapidly, leading to the induction of peritoneal dialysis at 5 years of age. Although this variant had not been previously reported, bilateral nephrectomy was performed to prevent any progression of the tumor. Histopathology showed all the glomeruli observed within the observation area to be completely sclerotic, while also showing evidence of embryonal hyperplasia. This case was not a hot spot for Denys-Drash syndrome, but it had a similar phenotype and pathology that could have been derived from a WT1 gene abnormality.
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Acknowledgements
We are grateful to Dr. Mina Takeichi, Shingo Nakao, Kenji Maehara, Yuka Iwaya, Shinya Suematsu, Yasuhiro Okabe, Kandai Nozu, and Satoshi Hisano for their assistance with this study. We appreciate the help of Dr. Brian Quinn (Japan Medical Communication, Fukuoka, Japan) in editing the manuscript. The authors declare no conflict of interest associated with this study.
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MK and MN wrote the manuscript. KN, KM, CN, and YK were responsible for clinical management and provided helpful discussions for completion of the work.
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Kurokawa, M., Nishimura, M., Nishiyama, K. et al. WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerulosclerosis with embryonal hyperplasia. Pediatr Nephrol 39, 2083–2085 (2024). https://doi.org/10.1007/s00467-024-06293-w
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DOI: https://doi.org/10.1007/s00467-024-06293-w