NEPHROPATHY WITH WILMS-TUMOR OR GONADAL-DYSGENESIS - INCOMPLETE DENYS-DRASH SYNDROME OR SEPARATE DISEASES

We report three children, one presenting with nephropathy, bilateral W ilms tumour (WT) and cryptorchism, one with combined nephropathy and g onadal dysgenesis and one with nephropathy which developed 13 years af ter a WT. The first case was recognized as typical Denys-Drash syndrom e (DDS) which is characterized by the combination of nephropathy, inte rsex disorders and WT. The two other patients, who did not express the full spectrum of the syndrome, were older than 10 years, when they re ached and stage renal failure. The fact that nephropathy in childhood is combined with such rare diseases like gonadal dysgenesis and/or WT, supports the concept of a common aetiology with DDS. Therefore, the p atients were analysed for possible Wilms tumour suppressor gene (WT1) mutations. In all three individuals mutations in the heterozygous conf iguration could be demonstrated. Conclusion These results provide evid ence that incomplete and complete DDS are diseases of the same spectru m. WT1 analysis of more children with two symptoms of the triad of DDS should be helpful in establishing genotype-phenotype correlations and in understanding differences in the clinical picture of DDS.