Yahya Majd H
Pediatrics, Ibn Al Haytham Hospital, Amman, JOR.
Cureus. 2023 Sep 12;15(9):e45121. doi: 10.7759/cureus.45121. eCollection 2023 Sep.
Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather than live births. The condition is often associated with other congenital anomalies, leading to the hypothesis that most affected fetuses do not survive to term. However, the exact cause and specific associated anomalies remain unclear and poorly described in the literature. The limited mention of bladder agenesis in textbooks and literature underscores the importance of creating a comprehensive source for future research in this field. Therefore, our objective is to collect and analyze data on bladder agenesis, focusing on associated anomalies and potential causes, to enhance our understanding of the condition. We conducted a thorough review of reports collected from three databases, Google Scholar, PubMed, and Science Direct, last searched on July 30, 2023, starting with 327 reports. Excluding duplicates and records written in languages other than English, veterinary studies, irrelevant reports, or stillbirths. Inclusion criteria were the following: cases must have proven bladder agenesis, not hypoplasia, and must have most of the information, including the age of diagnosis, presenting symptoms, gender, associated anomalies, and management or outcome of the patient. A quality assessment was conducted according to the Joanna Briggs Institute checklist for case reports. A total of 65 case reports from 56 articles were included in the review. Through our manual analysis, we documented a wild array of malformations associated with bladder agenesis. Among the reports reviewed, 93% exhibited urinary system malformations beside bladder agenesis, 77% were found to have reproductive malformations, 44% had gastrointestinal anomalies, 38% showed musculoskeletal malformations, 28% had cardiac malformations, and another 28% had vascular anomalies. The overall mortality rate was 38%, with a higher rate of 74% for males compared to 20% for females. By collating and analyzing those case reports, we aim to contribute to a better understanding of bladder agenesis and its associated anomalies, facilitating further investigations and advancements in the field.
膀胱缺如是一种罕见的先天性畸形，其特征为膀胱缺失。它主要在死产儿的尸体解剖中观察到，而非活产儿。这种情况常与其他先天性异常相关，这导致了一种假设，即大多数受影响的胎儿无法存活至足月。然而，确切病因和具体相关异常仍不明确，且文献中对此描述甚少。教科书和文献中对膀胱缺如的提及有限，这凸显了为该领域未来研究创建一个全面资料来源的重要性。因此，我们的目标是收集和分析关于膀胱缺如的数据，重点关注相关异常和潜在病因，以增进我们对该病症的了解。我们对从谷歌学术、PubMed和科学Direct这三个数据库收集的报告进行了全面回顾，最后一次搜索是在2023年7月30日，最初有327份报告。排除重复项以及用英语以外的语言撰写的记录、兽医研究、无关报告或死产案例。纳入标准如下：病例必须已证实为膀胱缺如，而非发育不全，并且必须具备大部分信息，包括诊断年龄、症状表现、性别、相关异常以及患者的治疗或结局。根据乔安娜·布里格斯研究所的病例报告清单进行了质量评估。该综述共纳入了56篇文章中的65份病例报告。通过我们的人工分析，我们记录了一系列与膀胱缺如相关的畸形。在所审查的报告中，93%除膀胱缺如外还存在泌尿系统畸形，77%有生殖系统畸形，44%有胃肠道异常，38%有肌肉骨骼畸形，28%有心脏畸形，另有28%有血管异常。总体死亡率为38%，男性死亡率较高，为74%，而女性为20%。通过整理和分析这些病例报告，我们旨在有助于更好地理解膀胱缺如及其相关异常，推动该领域的进一步研究和进展。
