Denys-Drash Syndrome

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 (sclerotic). They may develop high blood pressure because of the nephrotic syndrome. The condition of their kidneys worsens over time until the kidneys shut down and stop functioning (called end stage renal disease, or kidney failure), which requires dialysis or a kidney transplant. All children with Denys-Drash syndrome develop kidney failure, usually before age 3.

Wilms tumor
Wilms tumor is a cancerous tumor that grows on the kidneys. Almost all children with Denys-Drash syndrome develop Wilms tumor on one or both 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, which may cause them to be mistaken for girls. Girls may have enlarged labia and malformed ovaries. Children with Denys-Drash syndrome are at high risk for developing cancer in these malformed tissues.

Diagnosis of Denys-Drash syndrome
Since all children with the disorder have kidney disease, symptoms are typical of those for nephrotic syndrome:

* Swelling of parts of the body, especially the abdomen
* Very little urination
* Protein in the urine
* High blood pressure

Kidney disease may be diagnosed by blood tests and by taking a tissue from the kidneys (biopsy).

Symptoms of Wilms tumor include:

* Swollen abdomen and abdominal pain
* Blood in the urine
* A lump or mass in the abdomen

Wilms tumor can be diagnosed by abdominal ultrasound and computed tomography (CT) scan.

Abnormal outer genitalia can be seen at birth. Pelvic ultrasound and CT scan can determine if the sexual organs inside are malformed.

Treatment
Medical treatment of Denys-Drash syndrome includes management of 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, ultimately, kidney transplants. Abnormal sexual organs may be removed to prevent cancer growth.

source: about.com