Gupta Anita, Bischoff Andrea, Peña Alberto, Runck Laura A, Guasch Géraldine
Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Pediatr Surg Int. 2014 Nov;30(11):1089-95. doi: 10.1007/s00383-014-3593-8. Epub 2014 Sep 14.
The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the urethra, urinary bladder, vagina, anal canal, and rectum. Defective cloacal development and the resulting anorectal and urogenital malformations are some of the most severe congenital anomalies encountered in children. In the most severe form in females, the rectum, vagina, and urethra fail to develop separately and drain via a single common channel known as a cloaca into the perineum. In this review, we summarize our current knowledge of embryonic cloaca development and malformation, and compare them to what has already been described in the literature. We describe the use of mouse models of cloaca malformation to understand which signaling pathways and cellular mechanisms are involved in the process of normal cloaca development. We also discuss the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in 14 human cloaca malformations. Finally, we highlight the significance of these findings, compare them to prior studies, and discuss their implications for the pediatric surgeons. Understanding and identifying the molecular basis for cloaca malformation could provide foundation for tissue engineering efforts that in the future would reflect better surgical reconstruction and improved quality of life for patients.
肛门直肠和泌尿生殖系统起源于一个称为泄殖腔的共同胚胎结构。随后的发育导致泄殖腔分隔为尿道、膀胱、阴道、肛管和直肠。泄殖腔发育缺陷以及由此导致的肛门直肠和泌尿生殖系统畸形是儿童中最严重的先天性异常之一。在女性最严重的形式中，直肠、阴道和尿道未能分别发育，并通过一个称为泄殖腔的单一共同通道排入会阴。在这篇综述中，我们总结了目前关于胚胎泄殖腔发育和畸形的知识，并将它们与文献中已描述的内容进行比较。我们描述了泄殖腔畸形小鼠模型的应用，以了解哪些信号通路和细胞机制参与了正常泄殖腔发育过程。我们还讨论了在14例人类泄殖腔畸形的共同通道连续切片中发现的上皮和间质组织学的胚胎学相关性。最后，我们强调这些发现的重要性，将它们与先前的研究进行比较，并讨论它们对小儿外科医生的意义。了解和确定泄殖腔畸形的分子基础可为组织工程研究提供基础，未来这将为患者带来更好的手术重建和更高的生活质量。
