Zhang Xintao,Li Hongxing,Tang Weibing.Recent advances in applying single-cell sequencing technology for Hirschsprung’s disease[J].Journal of Clinical Pediatric Surgery,2026,(05):401-406.[doi:10.3760/cma.j.cn101785-20260202-00049]
单细胞测序技术在先天性巨结肠研究中的应用
- Title:
- Recent advances in applying single-cell sequencing technology for Hirschsprung’s disease
- 关键词:
- Hirschsprung病; 单细胞测序
- Keywords:
- Hirschsprung Disease; Single-cell Sequencing
- 摘要:
- 先天性巨结肠(Hirschsprung’s disease,HSCR)是婴幼儿时期常见的先天性肠神经发育异常疾病,由遗传因素和微环境因素共同作用导致。目前已证实的致病基因仅能解释不足50%的HSCR病例,且大量病例存在反复发生的并发症,因此HSCR的病因研究及并发症防治仍需进一步探索。单细胞测序技术可从单细胞水平,解析不同的细胞亚群及分子调控网络,单细胞转录组测序在HSCR研究中应用最为普遍,能帮助解析HSCR的微观发病机制。本文介绍单细胞测序技术在HSCR病因机制探索、治疗方案研发,以及先天性巨结肠相关性小肠结肠炎(Hirschsprung-associated enterocolitis,HAEC)研究中的应用价值,分析当下研究在稀有细胞检测、空间信息获取及临床转化等方面的不足,进而提出未来技术融合与临床转化的方向,为HSCR研究提供参考。
- Abstract:
- As a relatively common congenital disorder of enteric nervous system development in infants,Hirschsprung disease (HSCR) is a congenital gastrointestinal malformation caused by impaired migration and colonization of neural crest cells.Its causes are a combination of genetic and microenvironmental factors.Further explorations are still required for elucidating its pathogenesis,optimizing therapeutic strategies and managing complications.Single-cell sequencing technology may characterize the features of different cell subsets,the status of molecular regulatory networks and cell-cell interactions at single-cell level.Single-cell RNA sequencing has been widely utilized for HSCR researches and thus facilitating the dissection of microscopic pathogenesis of HSCR.This review focused upon the core application value of single-cell sequencing technology for elucidating the etiology and pathogenesis of HSCR,forumulating precise therapeutic strategies and managing Hirschsprung-associated enterocolitis (HAEC).It also examined current limitations of relevant studies in rare cell detection,spatial information acquisition and clinical translation.Further discussions were about future directions for technological integration and clinical translation,aiming to provide references for HSCR researches and clinical translations.
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备注/Memo
收稿日期:2026-2-2。
基金项目:南京医科大学附属儿童医院高水平医院科技创新支撑计划项目(KJCXZ2024002)
通讯作者:唐维兵,Email:twbcn@njmu.edu.cn