Muto Mitsuru, Matsufuji Hiroshi, Taguchi Tomoaki, Tomomasa Takeshi, Nio Masaki, Tamai Hiroshi, Tamura Masanori, Sago Haruhiko, Toki Akira, Nosaka Shunsuke, Kuroda Tatsuo, Yoshida Masahiro, Nakajima Atsushi, Kobayashi Hiroyuki, Sou Hideki, Masumoto Kouji, Watanabe Yoshio, Kanamori Yutaka, Hamada Yoshinori, Yamataka Atsuyuki, Shimojima Naoki, Kubota Akio, Ushijima Kosuke, Haruma Ken, Fukudo Shin, Araki Yuko, Kudo Takahiro, Obata Satoshi, Sumita Wataru, Watanabe Toshihiko, Fukahori Suguru, Fujii Yoshimitsu, Yamada Yoshiyuki, Jimbo Keisuke, Kawai Fujimi, Fukuoka Tomoya, Onuma Shinsuke, Morizane Toshio, Ieiri Satoshi, Esumi Genshiro, Jimbo Takahiro, Yamasaki Tomoko
The guideline establishment group for allied disorders of Hirschsprung's disease, Science Research, Ministry of Health Labour and Welfare, Fukuoka, Japan.
Pediatr Int. 2018 May;60(5):400-410. doi: 10.1111/ped.13559.
Despite the presence of ganglion cells in the rectum, some patients have symptoms similar to those of Hirschsprung's disease. A consensus has yet to be established regarding the terminology for these diseases. We defined this group of diseases as "allied disorders of Hirschsprung's disease" and compiled these guidelines to facilitate accurate clinician diagnosis and provide appropriate treatment strategies for each disease.
These guidelines were developed using the methodologies in the Medical Information Network Distribution System (MINDS). Of seven allied disorders, isolated hypoganglionosis; megacystis-microcolon-intestinal hypoperistalsis syndrome; and chronic idiopathic intestinal pseudo-obstruction were selected as targets of clinical questions (CQ). In a comprehensive search of the Japanese- and English-language articles in PubMed and Ichu-Shi Web, 836 pieces of evidence related to the CQ were extracted from 288 articles; these pieces of evidence were summarized in an evidence table.
We herein outline the newly established Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease. Given that the target diseases are rare and intractable, most evidence was drawn from case reports and case series. In the CQ, the diagnosis, medication, nutritional support, surgical therapy, and prognosis for each disease are given. We emphasize the importance of full-thickness intestinal biopsy specimens for the histopathological evaluation of enteric ganglia. Considering the practicality of the guidelines, the recommendations for each CQ were created with protracted discussions among specialists.
Clinical practice recommendations for allied disorders of Hirschprung's disease are given for each CQ, along with an assessment of the current evidence. We hope that the information will be helpful in daily practice and future studies.
尽管直肠中存在神经节细胞，但一些患者仍有类似于先天性巨结肠症的症状。对于这些疾病的术语尚未达成共识。我们将这组疾病定义为“先天性巨结肠症相关疾病”，并编写了这些指南，以促进临床医生的准确诊断，并为每种疾病提供适当的治疗策略。
这些指南是使用医学信息网络分发系统（MINDS）中的方法制定的。在七种相关疾病中，选择孤立性神经节减少症、巨膀胱-小结肠-肠蠕动减少综合征和慢性特发性假性肠梗阻作为临床问题（CQ）的目标。在全面检索PubMed和Ichu-Shi Web上的日语和英语文章后，从288篇文章中提取了836条与CQ相关的证据；这些证据被总结在一个证据表中。
我们在此概述新制定的先天性巨结肠症相关疾病的日本临床实践指南。鉴于目标疾病罕见且难治，大多数证据来自病例报告和病例系列。在CQ中，给出了每种疾病的诊断、药物治疗、营养支持、手术治疗和预后。我们强调全层肠活检标本对肠道神经节组织病理学评估的重要性。考虑到指南的实用性，通过专家之间的长期讨论，为每个CQ制定了建议。
针对先天性巨结肠症相关疾病的每个CQ给出了临床实践建议，并对当前证据进行了评估。我们希望这些信息对日常实践和未来研究有所帮助。
