Fendereski K, Schaeffer A J
Division of Urology, Department of Surgery, University of Utah School of Medicine, United States of America.
Intermountain Primary Children's Hospital, United States of America.
Afr Urol. 2024 Jun;4(se1):S20-S25. doi: 10.36303/auj.0152.
Bladder exstrophy-epispadias-cloacal exstrophy complex (BEEC) is a spectrum of congenital urologic anomalies that involve the bladder, urethra, genitalia, and pelvic musculoskeletal system, and can affect urinary continence, sexual health, and fertility. BEEC includes a wide spectrum of anatomical abnormalities with different levels of severity: epispadias represents the mildest phenotype, classic bladder exstrophy (CBE) is the most common defect, and cloacal exstrophy (CE) - often referred to as omphalocele, exstrophy, imperforate anus, and spinal defects (OEIS) complex - is the most severe form. BEEC disorders cause significant health problems and affect the health-related quality of life (QoL) of affected individuals. There have been significant insights into the aetiology of BEEC in the last decade. Specifically, recent genetic studies have suggested that downstream regulator(s) of , , and other genes may play a role in the failure of the lower urinary tract to close. This narrative review outlines the unique anatomy of bladder exstrophy (BE) and epispadias, with a brief mention of the anatomy found in CE. A literature review using PubMed and Google Scholar databases was used to identify relevant articles on the outlined topics without placing any limitations on publication years or study designs. We included full-text English articles published in peer-reviewed journals related to the terms: "exstrophy" & "epispadias" AND "aetiology", "embryology" and "incidence". We summarise the epidemiology of this rare complex - including what is known about its incidence in Africa - before presenting recent advances in comparative genetics from mouse models and human studies that provide insights into BEEC pathogenesis.
膀胱外翻-尿道上裂-泄殖腔外翻综合征（BEEC）是一系列先天性泌尿系统异常疾病，涉及膀胱、尿道、生殖器和骨盆肌肉骨骼系统，可影响排尿控制、性健康和生育能力。BEEC包括一系列严重程度不同的解剖学异常：尿道上裂代表最轻微的表型，典型膀胱外翻（CBE）是最常见的缺陷，泄殖腔外翻（CE）——通常被称为脐膨出、外翻、肛门闭锁和脊柱缺陷（OEIS）综合征——是最严重的形式。BEEC疾病会引发严重的健康问题，并影响患者的健康相关生活质量（QoL）。在过去十年中，人们对BEEC的病因有了重大认识。具体而言，最近的基因研究表明， 、 和其他基因的下游调节因子可能在下尿路闭合失败中起作用。这篇叙述性综述概述了膀胱外翻（BE）和尿道上裂的独特解剖结构，并简要提及了CE中的解剖结构。我们使用PubMed和谷歌学术数据库进行文献综述，以识别有关上述主题的相关文章，对发表年份或研究设计不设任何限制。我们纳入了发表在同行评审期刊上的与以下术语相关的全文英文文章：“外翻”和“尿道上裂”以及“病因学”、“胚胎学”和“发病率”。在介绍来自小鼠模型和人类研究的比较遗传学最新进展之前，我们总结了这种罕见综合征的流行病学情况，包括其在非洲的发病率情况，这些进展为BEEC的发病机制提供了见解。
