Overview
Megacystis-megaureter syndrome is a rare condition of the urinary tract that is present at birth. The name describes its two main features: 'megacystis' means an abnormally large bladder, and 'megaureter' means abnormally widened ureters (the tubes that carry urine from the kidneys to the bladder). In this condition, the bladder becomes very large and does not empty properly, and the ureters become dilated, sometimes massively so. This can lead to urine flowing backward from the bladder toward the kidneys (called vesicoureteral reflux) and can cause repeated urinary tract infections, kidney damage, and in severe cases, kidney failure. The condition is often detected before birth during routine prenatal ultrasound, which may show an enlarged bladder and dilated ureters in the developing baby. After birth, affected infants may have difficulty urinating, develop urinary tract infections, or show signs of poor kidney function. Boys are affected more often than girls. Treatment depends on the severity of the condition. Mild cases may be monitored closely with regular imaging and kidney function tests. More severe cases often require surgery to reduce the size of the bladder, reimplant the ureters, or relieve any obstruction. Antibiotics may be given to prevent urinary tract infections. In the most severe cases where kidney function is significantly impaired, dialysis or kidney transplantation may eventually be needed. Early diagnosis and management are important to preserve kidney function and prevent complications.
Also known as:
Key symptoms:
Very large bladderWidened ureters (tubes connecting kidneys to bladder)Difficulty urinating or weak urine streamFrequent urinary tract infectionsUrine flowing backward toward the kidneys (reflux)Swollen kidneys (hydronephrosis)Abdominal swelling or a mass felt in the bellyPoor kidney functionFailure to thrive or poor weight gain in infantsIncomplete bladder emptyingFlank or abdominal painFever from urinary infections
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableTecelra
TECELRA is a melanoma-associated antigen A4-(MAGE-A4)-directed genetically modified autologous T cell immunotherapy indicated for the treatment of adults with unresectable or metastatic synovial sarco…
TECELRA is a melanoma-associated antigen A4-(MAGE-A4)-directed genetically modified autologous T cell immunotherapy indicated for the treatment of adults with unresectable or metastatic synovial sarcoma who have received prior chemotherapy, are HLA-A*02:01P, -A*02:02P, -A*02:03P, or -A*02:06P positive and whose tumor expresses the MAGE-A4 antigen as determined by FDA-approved or cleared companion diagnostic devices.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Megacystis-megaureter syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Megacystis-megaureter syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Megacystis-megaureter syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition, and how much are the kidneys affected right now?,Will my child need surgery, and if so, what type and when?,Does my child need to take daily antibiotics to prevent infections?,Will my child need to do catheterization, and how can we learn the proper technique?,How often will my child need follow-up imaging and blood tests?,What are the long-term risks for kidney function, and could my child eventually need dialysis or a transplant?,Should we consider genetic testing, and is there a chance this could happen again in future pregnancies?
Common questions about Megacystis-megaureter syndrome
What is Megacystis-megaureter syndrome?
Megacystis-megaureter syndrome is a rare condition of the urinary tract that is present at birth. The name describes its two main features: 'megacystis' means an abnormally large bladder, and 'megaureter' means abnormally widened ureters (the tubes that carry urine from the kidneys to the bladder). In this condition, the bladder becomes very large and does not empty properly, and the ureters become dilated, sometimes massively so. This can lead to urine flowing backward from the bladder toward the kidneys (called vesicoureteral reflux) and can cause repeated urinary tract infections, kidney da
At what age does Megacystis-megaureter syndrome typically begin?
Typical onset of Megacystis-megaureter syndrome is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Megacystis-megaureter syndrome?
1 patient support program are currently tracked on UniteRare for Megacystis-megaureter syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.