ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Kristiina Kyrklund; Cornelius E J Sloots; Ivo de Blaauw; Kristin Bjørnland; Udo Rolle; Duccio Cavalieri; Paola Francalanci; Fabio Fusaro; Annette Lemli; Nicole Schwarzer; Francesco Fascetti-Leon; Nikhil Thapar; Lars Søndergaard Johansen; Dominique Berrebi; Jean-Pierre Hugot; Célia Crétolle; Alice S Brooks; Robert M Hofstra; Tomas Wester; Mikko P Pakarinen

doi:10.1186/s13023-020-01362-3

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Kristiina Kyrklund, Cornelius E J Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle, Alice S Brooks, Robert M Hofstra, Tomas Wester, Mikko P Pakarinen

138 Citations (Scopus)

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.

Original language	English
Journal	Orphanet Journal of Rare Diseases
Volume	15
Issue number	1
Pages (from-to)	164
ISSN	1750-1172
DOIs	https://doi.org/10.1186/s13023-020-01362-3
Publication status	Published - 25 Jun 2020

Keywords

Adult
Consensus
Europe
Hirschsprung Disease/diagnosis
Humans
Prevalence

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10.1186/s13023-020-01362-3

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Kyrklund, K., Sloots, C. E. J., de Blaauw, I., Bjørnland, 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., Crétolle, 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, 15(1), 164. https://doi.org/10.1186/s13023-020-01362-3

Kyrklund, K, Sloots, CEJ, de Blaauw, I, Bjørnland, K, Rolle, U, Cavalieri, D, Francalanci, P, Fusaro, F, Lemli, A, Schwarzer, N, Fascetti-Leon, F, Thapar, N, Johansen, LS, Berrebi, D, Hugot, J-P, Crétolle, C, Brooks, AS, Hofstra, RM, Wester, T & Pakarinen, MP 2020, 'ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 164. https://doi.org/10.1186/s13023-020-01362-3

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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.",

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AU - Kyrklund, Kristiina

AU - Sloots, Cornelius E J

AU - de Blaauw, Ivo

AU - Bjørnland, Kristin

AU - Rolle, Udo

AU - Cavalieri, Duccio

AU - Francalanci, Paola

AU - Fusaro, Fabio

AU - Lemli, Annette

AU - Schwarzer, Nicole

AU - Fascetti-Leon, Francesco

AU - Thapar, Nikhil

AU - Johansen, Lars Søndergaard

AU - Berrebi, Dominique

AU - Hugot, Jean-Pierre

AU - Crétolle, Célia

AU - Brooks, Alice S

AU - Hofstra, Robert M

AU - Wester, Tomas

AU - Pakarinen, Mikko P

PY - 2020/6/25

Y1 - 2020/6/25

N2 - 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.

AB - 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.

KW - Adult

KW - Consensus

KW - Europe

KW - Hirschsprung Disease/diagnosis

KW - Humans

KW - Prevalence

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DO - 10.1186/s13023-020-01362-3

M3 - Review

C2 - 32586397

SN - 1750-1172

VL - 15

SP - 164

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

ER -

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

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