Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.
Orphanet J Rare Dis. 2020 Jun 25;15(1):164. doi: 10.1186/s13023-020-01362-3.
Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management.
This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders.
Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted.
Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion.
In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.
先天性巨结肠（HSCR）是一种严重的先天性肠道疾病，患病率为 1/5000。目前，缺乏系统制定的指南来辅助临床决策，包括诊断和管理。
本指南旨在涵盖直肠乙状结肠 HSCR 的诊断和管理至成年。旨在描述 ERNICA（欧洲罕见遗传性和先天性消化疾病参考网络）的首选方法。
由来自 8 个欧洲国家的 8 个学科的专家组成的国际工作组（包括外科、医学、组织病理学、微生物学、遗传学和患者组织代表）在 ERNICA 欧洲参考网络内针对涵盖直肠乙状结肠 HSCR 护理路径的关键主题制定了建议。建议陈述是基于对现有文献的全面审查和专家共识。在制定过程中使用了 AGREE II 和 GRADE 方法。注意证据水平和一致性水平。
在 9 个关键领域生成了 33 条陈述。大多数建议都是基于专家意见。
在先天性巨结肠等罕见或低流行疾病中，高质量的临床证据仍然有限。本研究提出了基于共识的护理指南。
