Living with Drash syndrome
A genetic condition affecting the kidneys and genitals, with kidney disease starting in the first months of life and a high chance of Wilms tumor.
Understanding Drash syndrome
Kidney disease begins in the first few months of life. Scar tissue forms in the kidneys' tiny filtering blood vessels, which often leads to kidney failure in childhood. GARD estimates a 90 percent chance of developing Wilms tumor, a rare kidney cancer. Males have testes that haven't descended and genitals that may not look clearly male or female. Females usually have normal genitals and only the kidney features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney disease (nephropathy)
- Nephrotic syndrome (protein loss in urine)
- High blood pressure
- Wilms tumor (kidney tumor)
- Genitals that don't look clearly male or female
- Undescended testes (males)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in WT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the WT1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dds; denys drash syndrome; denys-drash syndrome; denys-drash syndrome, autosomal dominant, somatic mutation; nephropathy, wilms tumor, and genital anomalies; nephrotic syndrome type 4
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Drash syndrome.
Explore research for Drash syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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