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

96 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Orphanet Journal of Rare Diseases
Vol/bind	15
Udgave nummer	1
Sider (fra-til)	164
ISSN	1750-1172
DOI	https://doi.org/10.1186/s13023-020-01362-3
Status	Udgivet - 25 jun. 2020

Adgang til dokumentet

10.1186/s13023-020-01362-3

Citationsformater

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, bind 15, nr. 1, s. 164. https://doi.org/10.1186/s13023-020-01362-3

@article{81833916e7894a2db210956b66980e27,

title = "ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease",

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.",

keywords = "Adult, Consensus, Europe, Hirschsprung Disease/diagnosis, Humans, Prevalence",

author = "Kristiina Kyrklund and Sloots, {Cornelius E J} and {de Blaauw}, Ivo and Kristin Bj{\o}rnland and Udo Rolle and Duccio Cavalieri and Paola Francalanci and Fabio Fusaro and Annette Lemli and Nicole Schwarzer and Francesco Fascetti-Leon and Nikhil Thapar and Johansen, {Lars S{\o}ndergaard} and Dominique Berrebi and Jean-Pierre Hugot and C{\'e}lia Cr{\'e}tolle and Brooks, {Alice S} and Hofstra, {Robert M} and Tomas Wester and Pakarinen, {Mikko P}",

year = "2020",

month = jun,

day = "25",

doi = "10.1186/s13023-020-01362-3",

language = "English",

volume = "15",

pages = "164",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central Ltd",

number = "1",

}

TY - JOUR

T1 - ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

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

U2 - 10.1186/s13023-020-01362-3

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

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater