发育医学电子杂志  2022, Vol. 10 Issue (5): 392-396 DOI: 10.3969/j.issn.2095-5340.2022.05.012 |
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结构畸形
综述
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| 先天性巨结肠诊断方法和细胞治疗的研究进展 |
| 黄圆媛 任红霞 |
（1. 山西医科大学 儿科医学系，山西 太原 030000；2. 山西省儿童医院 新生儿外科，山西 太原 030000）
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| Research progress on diagnostic methods and cell-based therapies for Hirschsprung disease |
| Huang Yuanyuan, Ren Hongxia |
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摘要 先天性巨结肠又称希尔施普龙病（Hirschsprungdisease，HSCR），是一种肠道神经系统发育障碍性
疾病，发病率为（1~1.63）/10 000，其特点是神经节细胞在远端肠道缺失所导致的慢性功能性肠梗阻，
严重者危及生命。目前临床多以综合评估患者的临床表现、结合影像学和肛门直肠测压做出初步诊断，然后以直肠活检作为确诊HSCR 的金标准。在过去的70 年里, 传统手术切除病变肠段的治疗方法大幅降低了患儿的死亡率［1］。然而，常规手术均需切除直肠，这就破坏了直肠控制排便的重要功能。因此，许多儿童在术后仍被各种并发症所困扰，影响患儿的生活质量。其中，最常见的并发症包括梗阻症状、污粪、小肠结肠炎和发育障碍等［2-3］。近年来随着技术的发展，各类诊断方法取得了新的进步，使用干细胞移植技术重建肠道神经系统（entericnervous system，ENS）也逐渐成为当下治疗HSCR的研究热点［4］。本篇综述对HSCR 的诊断方法和细胞治疗等方面的新进展进行阐述。
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| 关键词:
先天性巨结肠
诊断方法
细胞治疗
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收稿日期: 2022-05-06
发布日期: 2022-09-30
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通讯作者:
任红霞
E-mail: renhongxia100@sina.com
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