Abstract: Objective To explore the WT1 mutation-induced nephrotic syndrome (NS), proteinuria or Wilms tumor in children and its long-term renal prognosis.Methods We analyzed the clinical features in patients with NS, proteinuria or Wilms tumor since from January 2001 to December 2018 in our medical center. Patients were divided by genotypes or divided into two subgroups of early detection and late detection of WT1.Results Twelve different mutations were detected in 22 patients, which all located between exon 8 and exon 9, including diagnosis of Denys-Drash syndrome (10 cases), Fraiser syndrome (3 cases) and isolated NS (9 cases). Five cases presented with pseudohermaphroditism. During follow up, 15 cases progressed into end stage renal disease (ESRD) and 5 cases into CKD 2-4 stage. Patients in early detection group had a significant longer duration of ESRD progression compared with the patients in late detection group by Kaplan-Meier survival analysis (P=0.011).Conclusion Detection of WT1 mutations should be performed in children with Wilms tumor, proteinuria/NS or chronic kidney disease. Early detection of WT1 mutations before developing into ESRD could help to delay the ESRD progression.

Key words: WT1, Chronic kidney disease, Denys-Drash syndrome, End stage renal disease, Fraiser syndrome, Nephrotic syndrome