Debys-Drash Syndrome

Debys-Drash syndrome (DDS) is a disorder with three main parts: Kidney disease present at birth, Wilms tumor (a kidney cancer), and a malformation of the sexual organs.  This syndrome is a genetic disorder that is caused by mutations in the Wilms tumor gene.

Kidney disease: Infants with Denys-Drash syndrome usually are diagnosed with kidney disease between 2 weeks and 18 months of age. These children develop nephrotic syndrome because the kidney tissue becomes hardened and scarred.  They may also develop high blood pressure because of this particular disease.

Wilms Tumor: This is a concerous tumor that grows on the kidneys.  Almost all of the children with Denys-Drash syndrome develop Wilms tumor on one of both of their kidneys.  Usually it is diagnosed at around 2 years of age.

Sexual organ malformation: Both the sexual organs inside the body and those on the outside can be malformed. Boys may have a very tiny penis with undescended malformed testicles, and girls may have enlarged labia and malformed ovaries.  Children with this syndrome are at high risk for developing cancer in these malformed tissues.

To be diagnosed with this particular syndrome there are usually symptoms that show:

• Swelling of the parts of the body, especially the abdomen
• Very little urination
• Protein in the urine
• High blood Pressure
• Swollen abdomen and abdominal pain
• Blood in the urine
• A lump or mass in the abdomen
• Abnormal outer genitalia can be seen at birth.

Treatment of Denys-Drash syndrome includes management of the kidney function, high blood pressure and complications from kidney disease.  Surgery is used to remove Wilms tumor and often both diseased kidneys are removed. The affected child would then need dialysis and in severe cases, kidney transplants. Abnormal sexual organs may be removed to prevent cancer growth.