ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

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http://hdl.handle.net/10138/318402

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Kyrklund , K , Sloots , C E J , de Blaauw , I , Bjornland , K , Rolle , U , Cavalieri , D , Francalanci , P , Fusaro , F , Lemli , A , Schwarzer , N , Fascetti-Leon , F , Thapar , N , Johansen , L S , Berrebi , D , Hugot , J-P , Cretolle , C , Brooks , A S , Hofstra , R M , Wester , T & Pakarinen , M P 2020 , ' ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease ' , Orphanet journal of rare diseases , vol. 15 , no. 1 , 164 . https://doi.org/10.1186/s13023-020-01362-3

Title: ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease
Author: Kyrklund, Kristiina; Sloots, Cornelius E. J.; de Blaauw, Ivo; Bjornland, Kristin; Rolle, Udo; Cavalieri, Duccio; Francalanci, Paola; Fusaro, Fabio; Lemli, Annette; Schwarzer, Nicole; Fascetti-Leon, Francesco; Thapar, Nikhil; Johansen, Lars Sondergaard; Berrebi, Dominique; Hugot, Jean-Pierre; Cretolle, Celia; Brooks, Alice S.; Hofstra, Robert M.; Wester, Tomas; Pakarinen, Mikko P.
Contributor: University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
Date: 2020-06-25
Language: eng
Number of pages: 16
Belongs to series: Orphanet journal of rare diseases
ISSN: 1750-1172
URI: http://hdl.handle.net/10138/318402
Abstract: Background 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. Aims 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. Methods 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. Results Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion 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.
Subject: Rectosigmoid Hirschsprung's disease
HSCR
Diagnosis
Management
Follow-up
ENDORECTAL PULL-THROUGH
QUALITY-OF-LIFE
POSTOPERATIVE OBSTRUCTIVE SYMPTOMS
LONG-TERM OUTCOMES
RET PROTOONCOGENE
BOWEL FUNCTION
ANORECTAL MALFORMATION
COLOANAL ANASTOMOSIS
FECAL INCONTINENCE
BOTULINUM TOXIN
3121 General medicine, internal medicine and other clinical medicine
1184 Genetics, developmental biology, physiology
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