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megacystis-megaureter syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megacystis-megaureter syndrome

MONDO:0016548

Also known as:megaureter-megacystis syndrome

Overview

Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for megacystis-megaureter syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for megacystis-megaureter syndrome.

5 publications have been identified in PubMed for megacystis-megaureter syndrome. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (40%), and Diagnostic / Biomarker (20%).

Recent Publications

Hilberath J (2025). [PMID: 41387873](https://pubmed.ncbi.nlm.nih.gov/41387873/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Brinkman LAM (2025). [PMID: 40040330](https://pubmed.ncbi.nlm.nih.gov/40040330/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Epidemiology / Natural History]
Mandaletti M (2024). [PMID: 39015208](https://pubmed.ncbi.nlm.nih.gov/39015208/). *Frontiers in pediatrics*. [Epidemiology / Natural History]
Kamoun D (2024). [PMID: 38812837](https://pubmed.ncbi.nlm.nih.gov/38812837/). *SAGE open medical case reports*. [Case Report / Case Series]
Richter J (2024). [PMID: 39620388](https://pubmed.ncbi.nlm.nih.gov/39620388/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:238637

GARD

Genetic and Rare Diseases Info Center

GARD:20638

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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megacystis-megaureter syndrome

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team