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Background Wilms tumour (WT) survivors, especially patients with associated syndromes or genitourinary anomalies due to constitutional  WT1  pathogenic variant, have increased risk of kidney failure. We describe the long-term kidney function in children with WT and  WT1  pathogenic variant to inform the surgical strategy and oncological management of such complex children. Methods Retrospective analysis of patients with WT and constitutional  WT1  pathogenic variant treated at a single centre between 1993 and 2016, reviewing genotype, phenotype, tumour histology, laterality, treatment, patient survival, and kidney outcome. Results We identified 25 patients (60% male, median age at diagnosis 14 months, range 4–74 months) with  WT1  deletion (4), missense (2), nonsense (8), frameshift (7), or splice site (4) pathogenic variant. Thirteen (52%) had bilateral disease, 3 (12%) had WT-aniridia, 1 had incomplete Denys-Drash syndrome, 11 (44%) had genitourinary malformation, and 10 (40%) had no phenotypic anomalies. Patient survival was 100% and 3 patients were in remission after relapse at median follow-up of 9 years. Seven patients (28%) commenced chronic dialysis of which 3 were after bilateral nephrectomies. The overall kidney survival for this cohort as mean time to start of dialysis was 13.38 years (95% CI: 10.3–16.4), where 7 patients experienced kidney failure at a median of 5.6 years. All of these 7 patients were subsequently transplanted. In addition, 2 patients have stage III and stage IV chronic kidney disease and 12 patients have albuminuria and/or treatment with ACE inhibitors. Four patients (3 frameshift; 1  WT1  deletion) had normal blood pressure and kidney function without proteinuria at follow-up from 1.5 to 12 years. Conclusions Despite the known high risk of kidney disease in patients with WT and constitutional  WT1  pathogenic variant, nearly two-thirds of patients had sustained native kidney function, suggesting that nephron-sparing surgery (NSS) should be attempted when possible without compromising oncological risk. Larger international studies are needed for accurate assessment of  WT1 genotype-kidney function phenotype correlation.

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant