Denys-Drash syndrome

Denys-Drash syndrome is the combination of diffuse mesangial sclerosis (DMS), neuroblastoma and male pseudohermaphroditism. So far, about 200 cases have been described.                                                                                                                                 

The first clinical manifestation of the disease may be a Wilms tumor. The syndrome develops after childbirth. The first symptoms are massive proteinuria and nephrotic syndrome, followed by renal failure within 1 to 4 years.

The cause of the syndrome are probably germ line mutations in the WT1 gene, which also predisposes to the Wilms tumor. The gene codes for a Tinkfinger protein and, as a transcription factor, has an effect on the development of the urogenital system. The anomalies are mostly dominant new mutations, which is why the risk of recurrence is very low.