Reyila Abasi, Lin Zhilang, Jiang Mengjie, Liu Longshan, Jiang Xiaoyun, Pei Yuxin
The median age at disease onset was 2.3 years, the median age at progression to ESKD was 4.1 years, and the median age at transplantation was 5.3 years. Three patients developed Wilms tumor, and three phenotypic females had a 46,XY karyotype with gonadal dysgenesis. Twelve distinct WT1 variants were identified, predominantly exon 9 missense variants and intron 9-10 splice-site variants. After a median follow-up of 32 months, all grafts remained functional, with a median estimated glomerular filtration rate of 68.7 mL/min/1.73 m². Epstein-Barr virus viremia occurred in five patients, and two developed post-transplant lymphoproliferative disorder. No disease recurrence was observed.
INTRODUCTION: WT1-associated kidney disease is an important cause of early-onset end-stage kidney disease (ESKD) in children and may be accompanied by Wilms tumor, gonadal tumors, and disorders of sex development (DSD), creating distinctive challenges for kidney transplantation and post-transplant management.
METHODS: We retrospectively analyzed 13 children with WT1-associated kidney disease who underwent kidney transplantation at a single center between February 2020 and October 2025. Clinical characteristics, genetic findings, transplant outcomes, and post-transplant complications were reviewed.
RESULTS: The median age at disease onset was 2.3 years, the median age at progression to ESKD was 4.1 years, and the median age at transplantation was 5.3 years. Three patients developed Wilms tumor, and three phenotypic females had a 46,XY karyotype with gonadal dysgenesis. Twelve distinct WT1 variants were identified, predominantly exon 9 missense variants and intron 9-10 splice-site variants. After a median follow-up of 32 months, all grafts remained functional, with a median estimated glomerular filtration rate of 68.7 mL/min/1.73 m². Epstein-Barr virus viremia occurred in five patients, and two developed post-transplant lymphoproliferative disorder. No disease recurrence was observed.
DISCUSSION: Kidney transplantation achieved favorable short- to mid-term graft outcomes in this cohort. Multidisciplinary surveillance of tumor history, gonadal abnormalities, and post-transplant viral complications remains essential.