Primary megaureter, adult-onset form

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Overview

Primary megaureter is a condition where one or both ureters (the tubes that carry urine from the kidneys to the bladder) become abnormally widened or dilated. In the adult-onset form, this condition is discovered or becomes symptomatic during adulthood rather than in childhood. The ureter may be dilated because of a problem at the point where it connects to the bladder, where a narrow or poorly functioning segment prevents urine from draining properly. This can lead to urine backing up toward the kidney, a condition called hydronephrosis. Symptoms in adults may include recurring urinary tract infections, flank or abdominal pain, blood in the urine, or kidney stones. Some people may have no symptoms at all, and the condition is found incidentally during imaging for another reason. Over time, if untreated, the backed-up urine can damage the kidney. Treatment depends on the severity. Mild cases may only need regular monitoring with ultrasound or other imaging. More significant cases, especially those causing recurrent infections, pain, or kidney damage, may require surgery. The most common surgical approach is called ureteral reimplantation, where the affected portion of the ureter is removed and the healthy ureter is reconnected to the bladder. Minimally invasive and endoscopic techniques are also increasingly used. With appropriate management, most adults with primary megaureter can maintain good kidney function and quality of life.

Key symptoms:

Flank or side painRecurring urinary tract infectionsBlood in the urineAbdominal pain or discomfortKidney stonesDifficulty urinating or changes in urinationSwelling of the kidney (hydronephrosis)Back painFever related to urinary infectionsNausea or vomiting during pain episodesFeeling of incomplete bladder emptying

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Primary megaureter, adult-onset form.

View clinical trials →

No actively recruiting trials found for Primary megaureter, adult-onset form at this time.

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Search ClinicalTrials.gov ↗Join the Primary megaureter, adult-onset form community →

No specialists are currently listed for Primary megaureter, adult-onset form.

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 Primary megaureter, adult-onset form.

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Community

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Caregiver Resources

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Mental Health Support

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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 megaureter, and is it affecting my kidney function?,Do I need surgery, or can we safely monitor this with regular imaging?,What are the risks and benefits of the different surgical options available to me?,How often should I have follow-up imaging and blood tests?,Are there things I can do in my daily life to protect my kidneys?,Should my family members be screened for urinary tract abnormalities?,What symptoms should prompt me to seek emergency care?

Common questions about Primary megaureter, adult-onset form

What is Primary megaureter, adult-onset form?

Primary megaureter is a condition where one or both ureters (the tubes that carry urine from the kidneys to the bladder) become abnormally widened or dilated. In the adult-onset form, this condition is discovered or becomes symptomatic during adulthood rather than in childhood. The ureter may be dilated because of a problem at the point where it connects to the bladder, where a narrow or poorly functioning segment prevents urine from draining properly. This can lead to urine backing up toward the kidney, a condition called hydronephrosis. Symptoms in adults may include recurring urinary tract

At what age does Primary megaureter, adult-onset form typically begin?

Typical onset of Primary megaureter, adult-onset form is adult. Age of onset can vary across affected individuals.