Mueller Jessica L, Hotta Ryo
Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Pediatric Surgery, Harvard Medical School, Boston, Massachusetts, USA.
World J Pediatr Surg. 2025 Mar 31;8(1):e000860. doi: 10.1136/wjps-2024-000860. eCollection 2025.
The enteric nervous system (ENS) consists of a network of neurons and glia that control numerous complex functions of the gastrointestinal tract. Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of ENS along variable lengths of distal intestine due to failure of neural crest-derived cells to colonize the distal intestine during embryonic development. A patient with HSCR usually presents with severe constipation in the neonatal period and is diagnosed by rectal suction biopsy, followed by pull-through procedure to surgically remove the affected segment and reconnect the proximal ganglionated intestine to the anus. Outcomes after pull-through surgery are suboptimal and many patients suffer from ongoing issues of dysmotility and bowel dysfunction, suggesting there is room for optimizing the management of this disease. This review focuses on discussing the recent advances to better understand HSCR and leverage them for more accurate and potentially less invasive diagnosis. We also discuss the potential future management of HSCR, particularly cell-based approaches for the treatment of HSCR.
肠神经系统（ENS）由控制胃肠道众多复杂功能的神经元和神经胶质细胞网络组成。先天性巨结肠症（HSCR）是一种先天性疾病，其特征是由于神经嵴衍生细胞在胚胎发育过程中未能定植于远端肠道，导致远端肠道不同长度范围内缺乏肠神经系统。HSCR患者通常在新生儿期出现严重便秘，通过直肠吸引活检进行诊断，随后进行拖出手术，以手术方式切除受影响的节段，并将近端有神经节的肠道重新连接到肛门。拖出手术后的结果并不理想，许多患者存在持续的运动障碍和肠道功能障碍问题，这表明优化该疾病的管理仍有空间。本综述重点讨论了为更好地理解HSCR并利用这些进展进行更准确且可能侵入性较小的诊断所取得的最新进展。我们还讨论了HSCR未来可能的管理方法，特别是基于细胞的HSCR治疗方法。
