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儿童先天性巨结肠症的诊断:一种新型直肠活检内镜技术的初步评估

Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy.

作者信息

Nabi Zaheer, Shava Upender, Sekharan Anuradha, Nageshwar Reddy Duvvur

机构信息

Asian Institute of Gastroenterology Hyderabad India.

出版信息

JGH Open. 2018 Oct 4;2(6):322-326. doi: 10.1002/jgh3.12092. eCollection 2018 Dec.

DOI:10.1002/jgh3.12092
PMID:30619945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6308050/
Abstract

BACKGROUND AND AIM

The diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD.

METHODS

Consecutive children with suspected HD from January 2013 to January 2018 were enrolled in the study. EMR was performed using the standard band ligation device at a distance of about 3 cm from dentate line in rectum. All samples were assessed macroscopically and microscopically. An adequate sample was defined as those measuring >3 mm and including adequate submucosa.

RESULTS

A total of 132 children underwent evaluation for constipation in the study period. Of these, 10 children (median age, 4.25 years) underwent EMR using the band ligation device for the evaluation of HD. EMR was performed with and without submucosal lifting injection in four and six children, respectively. All the samples were adequate macroscopically (>3 mm). Absence of ganglion cells was noted in six children. Of these, three children underwent full-thickness rectal biopsy followed by surgery. Three children did not undergo surgery. Ganglion cells were identified in four children, thereby excluding the diagnosis of HD.

CONCLUSION

Rectal biopsy using EMR with a band ligation device is feasible, safe, and provides adequate sample for the evaluation of HD in children.

摘要

背景与目的

先天性巨结肠(HD)的诊断依赖于肛门直肠测压和直肠活检。内镜活检在儿童HD诊断中的作用尚不确定。在本研究中,我们评估了通过内镜黏膜切除术(EMR)获取的活检标本对HD诊断的充分性。

方法

纳入2013年1月至2018年1月期间连续的疑似HD患儿。使用标准套扎装置在距直肠齿状线约3 cm处进行EMR。所有样本均进行大体和显微镜评估。充足样本定义为长度>3 mm且包含足够黏膜下层的样本。

结果

在研究期间共有132名儿童接受便秘评估。其中,10名儿童(中位年龄4.25岁)使用套扎装置进行EMR以评估HD。分别有4名和6名儿童在进行EMR时注射了黏膜下抬举剂和未注射。所有样本大体上均充足(>3 mm)。6名儿童被发现无神经节细胞。其中,3名儿童接受了全层直肠活检并随后进行了手术。3名儿童未接受手术。4名儿童发现有神经节细胞,从而排除了HD诊断。

结论

使用带套扎装置的EMR进行直肠活检是可行、安全的,并且能为评估儿童HD提供充足的样本。

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VideoGIE. 2018 Mar 28;3(5):157-158. doi: 10.1016/j.vgie.2018.02.008. eCollection 2018 May.
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Gastrointest Endosc. 2018 Mar;87(3):876-880. doi: 10.1016/j.gie.2017.08.037. Epub 2017 Sep 8.
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Hirschsprung's disease in the UK and Ireland: incidence and anomalies.
黏膜下内镜检查:现状与未来。
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Hirschsprung's disease: key microRNAs and target genes.先天性巨结肠症:关键 microRNAs 和靶基因。
Pediatr Res. 2022 Sep;92(3):737-747. doi: 10.1038/s41390-021-01872-1. Epub 2021 Dec 9.
英国和爱尔兰的先天性巨结肠症:发病率与异常情况
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