AKH Kwok, SMY Wong, MT Leung, WKY Chan

Abstract

We report on a boy with known bilateral undescended testes who was incidentally detected to have proteinuria on a routine pre-operative assessment. Further investigations confirmed childhood nephrotic syndrome. Because of atypical features, an early ultrasound kidney was arranged and it showed bilateral nephroblastomatosis. His karyotype was 46XY. Further DNA analysis showed a heterozygous mutation in Wilms tumour suppressor gene 1 (WT1 gene). A diagnosis of Denys Drash syndrome was made and he underwent treatment for Wilm's tumour.