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Bladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings
K Fendereski1, A J Schaeffer1,2
1Division of Urology, Department of Surgery, University of Utah School of Medicine, United States of America.
African Urology
|December 17, 2024
Summary
Bladder exstrophy-epispadias-cloacal exstrophy complex (BEEC) is a spectrum of congenital urologic anomalies. Recent genetic insights suggest specific gene regulators may influence lower urinary tract closure failure in BEEC.
Area of Science:
- Urology
- Developmental Biology
- Genetics
Background:
- Bladder exstrophy-epispadias-cloacal exstrophy complex (BEEC) encompasses a range of congenital urologic anomalies affecting the bladder, genitalia, and musculoskeletal system.
- These conditions, including epispadias, classic bladder exstrophy (CBE), and the severe cloacal exstrophy (CE)/OEIS complex, significantly impact urinary continence, sexual health, and quality of life.
Purpose of the Study:
- To review the anatomy, epidemiology, and recent genetic insights into the pathogenesis of BEEC.
- To summarize current knowledge on BEEC incidence, particularly in Africa, and discuss findings from comparative genetics.
Main Methods:
- A narrative review of literature was conducted using PubMed and Google Scholar.
- Included full-text English articles on "exstrophy" & "epispadias" AND "aetiology", "embryology", and "incidence" without publication year or study design limitations.
Main Results:
- Recent genetic studies implicate downstream regulators of genes like p63 and Isl1 in lower urinary tract closure failure.
- The review outlines the distinct anatomy of BEEC phenotypes and summarizes epidemiological data, including African incidence.
Conclusions:
- BEEC represents a complex spectrum of congenital anomalies with significant health implications.
- Advances in comparative genetics offer crucial insights into the underlying pathogenesis of BEEC, highlighting the role of specific gene pathways.
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