Congenital primary megaureter, obstructed form

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Overview

Congenital primary megaureter (obstructed form) is a condition present at birth where one or both ureters — the tubes that carry urine from the kidneys to the bladder — are abnormally wide (dilated). In the obstructed form, there is a blockage or narrowing at the point where the ureter connects to the bladder (the ureterovesical junction). This blockage prevents urine from flowing freely into the bladder, causing it to back up and stretch the ureter. Over time, if untreated, this backup of urine can put pressure on the kidney and potentially damage it, a condition called hydronephrosis. This condition is often detected before birth during routine prenatal ultrasound, which may show a swollen ureter or kidney. After birth, babies may develop urinary tract infections, abdominal pain, or blood in the urine. Some children have no symptoms at all and the condition is found incidentally. The severity varies widely — some cases resolve on their own as the child grows, while others require surgical correction. Treatment depends on the degree of obstruction and whether kidney function is affected. Mild cases may be monitored with regular imaging and kidney function tests. More severe cases, especially those causing recurrent infections or declining kidney function, typically require surgery called ureteral reimplantation, where the narrowed segment is removed and the ureter is reconnected to the bladder. The outlook is generally good when the condition is identified and managed early.

Key symptoms:

Swollen or dilated ureter seen on ultrasoundSwelling of the kidney (hydronephrosis)Urinary tract infectionsFever related to urinary infectionsAbdominal or flank painBlood in the urinePoor urine flowFailure to thrive in infantsAbdominal mass felt on examinationNausea or vomiting with infectionsKidney stones in some cases

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital primary megaureter, obstructed form.

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No actively recruiting trials found for Congenital primary megaureter, obstructed form at this time.

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No specialists are currently listed for Congenital primary megaureter, obstructed form.

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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 Congenital primary megaureter, obstructed form.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's megaureter on one side or both sides, and how severe is the obstruction?,How is my child's kidney function right now, and is there any damage?,Is there a chance this will resolve on its own, or will surgery likely be needed?,Should my child be on preventive antibiotics, and for how long?,How often will imaging and follow-up tests be needed?,What signs should prompt me to bring my child to the emergency room?,What are the long-term risks for kidney health, and will my child need monitoring into adulthood?

Common questions about Congenital primary megaureter, obstructed form

What is Congenital primary megaureter, obstructed form?

Congenital primary megaureter (obstructed form) is a condition present at birth where one or both ureters — the tubes that carry urine from the kidneys to the bladder — are abnormally wide (dilated). In the obstructed form, there is a blockage or narrowing at the point where the ureter connects to the bladder (the ureterovesical junction). This blockage prevents urine from flowing freely into the bladder, causing it to back up and stretch the ureter. Over time, if untreated, this backup of urine can put pressure on the kidney and potentially damage it, a condition called hydronephrosis. This

How is Congenital primary megaureter, obstructed form inherited?

Congenital primary megaureter, obstructed form follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital primary megaureter, obstructed form typically begin?

Typical onset of Congenital primary megaureter, obstructed form is neonatal. Age of onset can vary across affected individuals.