ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Kristiina Kyrklund¹, Cornelius E J Sloots², Ivo de Blaauw³, Kristin Bjørnland⁴, Udo Rolle⁵, Duccio Cavalieri⁶, Paola Francalanci⁷, Fabio Fusaro⁸, Annette Lemli⁹, Nicole Schwarzer⁹, Francesco Fascetti-Leon¹⁰, Nikhil Thapar¹¹, Lars Søndergaard Johansen¹², Dominique Berrebi¹³, Jean-Pierre Hugot¹⁴, Célia Crétolle¹⁵, Alice S Brooks¹⁶, Robert M Hofstra¹⁶, Tomas Wester¹⁷, Mikko P Pakarinen¹⁸

Affiliations

¹ Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. kristiina.kyrklund@hus.fi.
² Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.
³ Department of Surgery, Division of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, The Netherlands.
⁴ Department of Pediatric Surgery, Oslo University Hospital and University of Oslo, Oslo, Norway.
⁵ Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Frankfurt/M, Germany.
⁶ Department of Biology, University of Florence, A.Mor.Hi, The Italian Association for Hirschsprung's disease, Florence, Italy.
⁷ Pathology Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
⁸ Neonatal Surgery Unit - Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
⁹ SoMA, The German patient support organization for anorectal malformations and Hirschsprung Disease, Munich, Germany.
¹⁰ Pediatric Surgery, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
¹¹ UCL Great Ormond Street Institute of Child Health; Department of Pediatric Gastroenterology, Great Ormond Street Hospital for Children, London, UK.
¹² Department of Surgery and Transplantation, Abdominal Centre, Rigshospitalet, Copenhagen, Denmark.
¹³ Department of Pediatric Pathology, Hôpital Universitaire Robert Debré, Paris Diderot University, Paris, France.
¹⁴ Department of Pediatric Gastroenterology, Hôpital Universitaire Robert Debré, Assistance Publique Hôpitaux de Paris, Université de Paris, Paris, France.
¹⁵ Department of Pediatric Surgery, University Hospital Necker-Enfants Malades, APHP centre, Paris University, Paris, France.
¹⁶ Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
¹⁷ Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
¹⁸ Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

PMID: 32586397
PMCID: PMC7318734
DOI: 10.1186/s13023-020-01362-3

Review

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Kristiina Kyrklund et al. Orphanet J Rare Dis. 2020.

. 2020 Jun 25;15(1):164.

doi: 10.1186/s13023-020-01362-3.

Authors

Affiliations

¹ Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. kristiina.kyrklund@hus.fi.
² Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.
³ Department of Surgery, Division of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, The Netherlands.
⁴ Department of Pediatric Surgery, Oslo University Hospital and University of Oslo, Oslo, Norway.
⁵ Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Frankfurt/M, Germany.
⁶ Department of Biology, University of Florence, A.Mor.Hi, The Italian Association for Hirschsprung's disease, Florence, Italy.
⁷ Pathology Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
⁸ Neonatal Surgery Unit - Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
⁹ SoMA, The German patient support organization for anorectal malformations and Hirschsprung Disease, Munich, Germany.
¹⁰ Pediatric Surgery, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
¹¹ UCL Great Ormond Street Institute of Child Health; Department of Pediatric Gastroenterology, Great Ormond Street Hospital for Children, London, UK.
¹² Department of Surgery and Transplantation, Abdominal Centre, Rigshospitalet, Copenhagen, Denmark.
¹³ Department of Pediatric Pathology, Hôpital Universitaire Robert Debré, Paris Diderot University, Paris, France.
¹⁴ Department of Pediatric Gastroenterology, Hôpital Universitaire Robert Debré, Assistance Publique Hôpitaux de Paris, Université de Paris, Paris, France.
¹⁵ Department of Pediatric Surgery, University Hospital Necker-Enfants Malades, APHP centre, Paris University, Paris, France.
¹⁶ Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
¹⁷ Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
¹⁸ Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

PMID: 32586397
PMCID: PMC7318734
DOI: 10.1186/s13023-020-01362-3

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: Diagnosis; Follow-up; HSCR; Management; Rectosigmoid Hirschsprung’s disease.

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Conflict of interest statement

The authors declare that they have no competing interests

References

1. Langer JC. Hirschsprung disease. Curr Opin Pediatr. 2013;25:368–374. - PubMed
1. Neuvonen MI, Kyrklund K, Lindahl HG, et al. A population-based, complete follow-up of 146 consecutive patients after transanal mucosectomy for Hirschsprung’s disease. J Pediatr Surg. 2015;50:1653–1658. - PubMed
1. European Commission: European Reference Networks https://ec.europa.eu/health/sites/health/files/ern/docs/2017_brochure_en..., last Accessed 3rd October 2019.
1. Bradnock TJ, Knight M, Kenny S, et al. on behalf of the British Association of Pediatric Surgeons Congenital Anomalies Surveillance System. Hirschprung’s disease in the UK and Ireland: incidence and anomalies. Arch Dis Child. 2017;102:722–727. - PMC - PubMed
1. Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung’s disease. Acta Paediatr. 1994;83:68–71. - PubMed

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ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Affiliations

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources