Budianto Iskandar R, Obata Satoshi, Kinoshita Yoshiaki, Yoshimaru Koichiro, Yanagi Yusuke, Miyata Junko, Nagata Kouji, Ieiri Satoshi, Taguchi Tomoaki
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Pediatr Gastroenterol Nutr. 2015 May;60(5):606-12. doi: 10.1097/MPG.0000000000000664.
Acetylcholinesterase (AChE) staining has become the gold standard for definitively diagnosing Hirschsprung disease (HD), although some pitfalls have been reported. We reevaluated a large series at our institute in order to validate the accuracy of AChE staining for detecting HD.
A retrospective study of the rectal mucosal specimens of all of the children with suspected HD during a 13-year period was performed. The specimens were stained according to the modified Karnovsky-Roots method for AChE staining. The final diagnosis, prognosis, and management after the histopathological diagnosis were analyzed with a questionnaire sent to the patient's original hospital.
Three hundred and fifty-eight specimens were collected. One hundred twenty-two (34%) specimens were diagnosed as HD, 198 (55%) as nonHD, 25 (7%) as "undetermined," and 13 (4%) as "inappropriate." The non-HD group contained 190 (96%) specimens with a normal appearance and 8 (4%) specimens with suspected intestinal neuronal dysplasia (IND). Three hundred and six of 358 questionnaires were returned. The final diagnosis showed that no specimens first diagnosed as HD were identified as non-HD and vice versa, for a sensitivity and specificity of 100%. Four cases were finally diagnosed as chronic idiopathic intestinal pseudo-obstruction (CIIP) in the non-HD group. All of the patients with HD underwent radical surgery. Most non-HD patients were managed conservatively, although some continued to have constipation.
AChE staining is an accurate tool for differentiating between HD and non-HD with high sensitivity and specificity. CIIP can be included in cases of non-HD; therefore, careful follow-up is mandatory.
尽管有一些缺陷报道，但乙酰胆碱酯酶（AChE）染色已成为明确诊断先天性巨结肠（HD）的金标准。我们在本机构重新评估了一大系列病例，以验证AChE染色检测HD的准确性。
对13年间所有疑似HD儿童的直肠黏膜标本进行回顾性研究。标本按照改良的卡诺夫斯基 - 鲁茨法进行AChE染色。通过向患者原医院发送问卷来分析组织病理学诊断后的最终诊断、预后和治疗情况。
共收集358份标本。122份（34%）标本诊断为HD，198份（55%）为非HD，25份（7%）为“未确定”，13份（4%）为“不适当”。非HD组包含190份（96%）外观正常的标本和8份（4%）疑似肠道神经元发育异常（IND）的标本。358份问卷中返回了306份。最终诊断显示，最初诊断为HD的标本没有被鉴定为非HD，反之亦然，敏感性和特异性均为100%。非HD组中有4例最终诊断为慢性特发性肠道假性梗阻（CIIP）。所有HD患者均接受了根治性手术。大多数非HD患者采用保守治疗，尽管有些患者仍有便秘。
AChE染色是区分HD和非HD的准确工具，具有高敏感性和特异性。CIIP可纳入非HD病例；因此，必须进行仔细随访。
