Congenital primary megaureter, refluxing form

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Overview

Congenital primary megaureter, refluxing form, is a condition present from birth in which one or both ureters (the tubes that carry urine from the kidneys to the bladder) are abnormally wide (dilated). In the refluxing form, urine flows backward from the bladder up toward the kidneys, a problem known as vesicoureteral reflux (VUR). This happens because the connection between the ureter and the bladder does not work properly, allowing urine to travel in the wrong direction. The condition is often detected before birth on prenatal ultrasound or in early infancy when a child develops urinary tract infections. Key symptoms include recurrent urinary tract infections, flank or abdominal pain, and in some cases, poor kidney growth or kidney damage if the reflux is severe and left untreated. Some children may have no obvious symptoms, and the condition is discovered incidentally during imaging studies. Boys are affected more often than girls, and the condition can occur on one or both sides. Treatment depends on the severity. Many mild cases resolve on their own as the child grows, and doctors may recommend a watch-and-wait approach with preventive low-dose antibiotics to reduce urinary tract infections. More severe cases, especially those causing kidney damage or recurrent infections despite antibiotics, may require surgical correction. The most common surgery is ureteral reimplantation, where the ureter is repositioned into the bladder to prevent reflux. Endoscopic injection therapy is another less invasive option. With appropriate monitoring and treatment, most children have an excellent long-term outcome.

Key symptoms:

Widened ureter visible on imagingRecurrent urinary tract infectionsFever with urinary infectionsFlank or side painAbdominal painSwelling of the kidney (hydronephrosis)Poor weight gain in infantsFoul-smelling urineFrequent urinationBlood in the urineReduced kidney function over time if untreatedPrenatal finding of dilated urinary tract

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

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

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

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my child's reflux, and is one or both sides affected?,Is there any sign of kidney damage or scarring already?,Is my child likely to outgrow this condition, or will surgery be needed?,Should my child take preventive antibiotics, and for how long?,How often will my child need ultrasounds or other imaging tests?,What signs should prompt me to bring my child to the emergency room?,Are there any activity or dietary restrictions my child should follow?

Common questions about Congenital primary megaureter, refluxing form

What is Congenital primary megaureter, refluxing form?

Congenital primary megaureter, refluxing form, is a condition present from birth in which one or both ureters (the tubes that carry urine from the kidneys to the bladder) are abnormally wide (dilated). In the refluxing form, urine flows backward from the bladder up toward the kidneys, a problem known as vesicoureteral reflux (VUR). This happens because the connection between the ureter and the bladder does not work properly, allowing urine to travel in the wrong direction. The condition is often detected before birth on prenatal ultrasound or in early infancy when a child develops urinary trac

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

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