Denys-Drash Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Denys-Drash Syndrome?
A pediatric nephrologist, a children's kidney doctor, usually leads care for Denys-Drash syndrome. A children's cancer doctor and a genetics doctor (geneticist) are often on the team. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Denys-Drash syndrome?
Denys-Drash syndrome is a condition that affects the kidneys and the genitalia, the outer sex organs. Kidney disease begins early in life. Scar tissue forms throughout the glomeruli. These are tiny blood vessels in the kidneys that filter waste from blood. This often leads to kidney failure in childhood. The syndrome also raises the risk of Wilms tumor, a rare form of kidney cancer.
Symptoms
The first symptoms may look like nephrotic syndrome, a kidney problem that leaks protein into the urine. They include:
- Swelling (edema), a swollen belly, and repeated infections. These are sometimes there at birth. More often they start between 1 and 2 years of age.
- High blood pressure, which many affected children develop.
- Kidney failure, which often happens in childhood.
- Wilms tumor, a cancerous kidney tumor. People with Denys-Drash syndrome have an estimated 90 percent chance of developing it.
Signs of Wilms tumor can include a swollen belly, blood in the urine, and less urine. Other signs are low-grade fever, loss of appetite, paleness, weight loss, and lethargy (unusual tiredness).
Boys with Denys-Drash syndrome have typical male chromosomes (46,XY). Their outer genitals may not look clearly male or clearly female, or may look female. Their testes are undescended, meaning they sit in the pelvis, abdomen, or groin. Boys with the syndrome typically cannot have biological children. Girls with the syndrome usually have normal genitalia. Only their kidneys are affected.
Causes and who gets it
Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 protein plays a role in the development of the kidneys and gonads (the ovaries or testes) before birth.
It is passed on in an autosomal dominant pattern. This means one altered copy of the gene is enough to cause it. Most cases are not inherited from a parent and result from a new gene mutation.
How doctors diagnose it
Doctors use signs, lab tests, scans, and a kidney biopsy to diagnose it. A kidney biopsy takes a small piece of kidney tissue to check for a type of scarring called diffuse mesangial sclerosis. A gene test for WT1 can confirm the diagnosis.
Treatment
NORD, a rare disease group, says treatment is supportive. This means it eases problems. The team includes kidney, cancer, surgery, and hormone doctors for children, plus a geneticist. Care includes managing body fluids and salts and treating high blood pressure. Chemotherapy (cancer medicine) is used for Wilms tumor if it is present.
NORD recommends removing the kidneys (nephrectomy) if the syndrome is found before Wilms tumor develops. It recommends dialysis or a kidney transplant after kidney failure or nephrectomy. It also recommends surgery to remove the internal sex organs (gonadectomy). The reason is a high risk of cancer in them. It also advises genetic counseling. Follow your care team's instructions about any treatment.
When to see a doctor
See a doctor soon if a child has swelling, a swollen belly, or repeated infections. Blood in the urine, less urine, weight loss, or unusual tiredness also need a visit. They can be signs of Wilms tumor. Call 911 or go to the emergency room if you have severe belly pain, fainting, or a sudden change in mental state, such as confusion.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A doctor like this can review symptoms and test results. They can also help coordinate specialists and help with follow-up care.
Common questions
Is Denys-Drash syndrome inherited?
Usually not, because most cases are not inherited from a parent. It follows an autosomal dominant pattern. This means one altered copy of the gene is enough to cause it.
Does Denys-Drash syndrome cause cancer?
Yes, it raises the risk of cancer. People with the syndrome have an estimated 90 percent chance of developing Wilms tumor, a rare kidney cancer. Affected people of both genders are also at risk for cancers of the testes or ovaries.
Does Denys-Drash syndrome affect girls?
Yes, but usually only the kidneys. Girls do not have all the features. They often get a diagnosis of nephrotic syndrome alone.
Do children with Denys-Drash syndrome need a kidney transplant?
Some do. Dialysis or a kidney transplant is recommended after kidney failure or after the kidneys are removed.
Sources
- MedlinePlus Genetics - Denys-Drash syndrome
- National Organization for Rare Disorders (NORD) - Denys-Drash Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
