Table of Contents

HK J Paediatr (New Series)
Vol 23. No. 2, 2018

HK J Paediatr (New Series) 2018;23:188-191

Case Report

Denys Drash Syndrome, What Paediatrician Should Know About?

AKH Kwok, SMY Wong, MT Leung, WKY Chan


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.

Keyword : Denys-Drash syndrome; Genes, Nephrotic syndrome; Pseudohermaphroditism; Wilms tumour; WT1 proteins

Abstract in Chinese


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