Living with Atresia of urethra
A rare condition seen before birth in which the tube that carries urine out of the bladder is closed or did not form.
Understanding Atresia of urethra
It causes a blockage in the lower urinary tract that can be seen before birth. The bladder becomes very large (megacystis), amniotic fluid is low, and the kidneys can be affected. Urine can back up to the kidneys and ureters. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very large bladder (megacystis)
- Low amniotic fluid (oligohydramnios)
- Swollen kidneys from backed-up urine (hydronephrosis)
- Frequent urinary tract infections
- Urine flowing backward toward the kidneys (reflux)
- Kidney problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, kidney specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition but doesn't list a specific gene or inheritance pattern.
Also known as: absent urethral opening; atresia of urethra (disease); urethral atresia; urethral opening absent
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Atresia of urethra.
Explore research for Atresia of urethra
Explore actively recruiting Atresia of urethra studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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