Living with Ventriculomegaly-cystic kidney disease
A rare genetic condition found before birth, with enlarged fluid spaces in the brain and cysts in the kidneys.
Understanding Ventriculomegaly-cystic kidney disease
GARD describes three main findings: high alpha-fetoprotein levels in the mother's blood and amniotic fluid, enlarged brain ventricles (ventriculomegaly), and kidney cysts. Other findings can include kidney protein loss at birth, a narrow brain fluid channel, and heart differences. It is often found during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged fluid spaces in the brain (ventriculomegaly)
- Kidney cysts
- Bright-looking kidneys on ultrasound
- Seizures
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 brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in CRB2 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); 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
This condition is caused by changes in the CRB2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebral ventriculomegaly, cystic kidney disease; congenital nephrosis-cerebral ventriculomegaly syndrome; congenital nephrosis, cerebral ventriculomegaly syndrome; ventriculomegaly with cystic kidney disease; vmckd; vmckd - ventriculomegaly with cystic kidney disease
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 Ventriculomegaly-cystic kidney disease.
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