Megacystis-megaureter syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:238637Q62.7
Who is this for?
Show terms as
1FDA treatments8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

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

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

1 available

Tecelra

afamitresgene autoleucel· USWM CT, LLC■ Boxed WarningAccelerated Approval
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.

No actively recruiting trials found for Megacystis-megaureter syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Megacystis-megaureter syndrome community →

No specialists are currently listed for Megacystis-megaureter syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Megacystis-megaureter syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Megacystis-megaureter syndromeForum →

No community posts yet. Be the first to share your experience with Megacystis-megaureter syndrome.

Start the conversation →

Latest news about Megacystis-megaureter syndrome

No recent news articles for Megacystis-megaureter syndrome.

Follow this condition to be notified when news becomes available.

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.