WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerulosclerosis with embryonal hyperplasia.
Pediatr Nephrol
; 39(7): 2083-2085, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38265486
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_024426.6exon10c.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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Glomeruloesclerosis Focal y Segmentaria
/
Exones
/
Mutación Missense
/
Proteínas WT1
Límite:
Child
/
Humans
/
Male
Idioma:
En
Año:
2024
Tipo del documento:
Article