Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis.

Anna Löf Granström, Ernst van Heurn, Martin Lacher, Nagoud Schukfeh, Célia Crétolle, Sabine Alexander, Annette Lemli, Marc Miserez, Anne Dariel, Francesco Fascetti-Leon, Anders Telle Hoel, Willemijn Irvine, Kristiina Kyrklund, Cecile Lambe, Cornelius E J Sloots, Merit Tabbers, Nikhil Thapar, Mikko P Pakarinen, Duccio Cavalieri, Tomas Wester, Fabio Fusaro, Kristin Bjørnland, Rony Sfeir, Niels Qvist

Journal: Journal of pediatric surgery 2024;59(10):161565

PMID: 38763854

Free Full Text on Elsevier Science View on PubMed

Abstract

BACKGROUND

Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or total intestinal aganglionosis, defined as absence of ganglion cells in the entire colon and with variable length of small bowel involved, are life-threatening conditions which affect less than 10 % of all patients with Hirschsprung disease. The aim of this project was to develop clinical consensus statements within ERNICA, the European Reference Network for rare congenital digestive diseases, on four major topics: Surgical treatment of total colonic aganglionosis, surgical treatment of total intestinal aganglionosis, management of poor bowel function in total colonic and/or intestinal aganglionosis and long-term management in total colonic and or intestinal aganglionosis.

METHODS

A multidisciplinary panel of representatives from ERNICA centers was invited to participate. Literature was searched, using specified search terms, in Medline (ALL), Embase and Google Scholar. Abstracts were screened and full text publications were selected. The panel was divided in four groups that extracted data from the full text publications and suggested draft statements for each of the major topics. A modified Delphi process was used to refine and agree on the statements.

RESULTS

The consensus statement was conducted by a multidisciplinary panel of 24 participants from 10 European countries, 45 statements reached consensus after 3 Delphi-rounds. The availability of high-quality clinical evidence was limited, and most statements were based on expert opinion. Another 25 statements did not reach consensus.

CONCLUSIONS

Total colonic and total intestinal aganglionosis are rare variants of Hirschsprung disease, with very limited availability of high-quality clinical evidence. This consensus statement provides statements on the surgical treatment, management of poor bowel function and long-term management for these rare patients. The expert panel agreed that patients benefit from multidisciplinary and personalized care, preferably in an expert center.

TYPE OF STUDY

Clinical consensus statement.

LEVEL OF EVIDENCE

3a.

Address: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Unit of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden. Electronic address: [email protected].; Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, the Netherlands.; Department of Pediatric Surgery, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Emma Children's Hospital - Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Section of Pediatric Surgery, New Children's Hospital, University of Helsinki, Finland.; University of Padua, Department of Women's and Children's Health, Padua, Italy; University Hospital, Unit of Pediatric Surgery, Division of Women's and Children's Health, Padua, Italy.; Neonatal Surgery Unit, Bambino Gesù Children's Research Hospital, Rome, Italy.; Stem Cell and Regenerative Medicine, Gos Institute of Child Health, University College London, London, UK; Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Brisbane, Australia; School of Medicine, University of Queensland, Brisbane, Australia; Woolworths Centre for Child Nutrition Research, Queensland University of Technology, Brisbane, Australia.; Department of Pediatric Surgery, Assistance Publique Des Hôpitaux De Marseille, Hôpital Timone Enfants, Marseille, France.; Department of Pediatric Surgery, Erasmus Mc - Sophia Children's Hospital, Rotterdam, the Netherlands.; Department of Abdominal Surgery, University Hospital Gasthuisberg, Ku Leuven, Belgium.; Soma, The German Patient Support Organization for Anorectal Malformations and Hirschsprung Disease, Munich, Germany.; Service De Gastro-Entérologie Et Nutrition Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris Cité, Paris, France.; Pediatric Surgery Department, National Reference Center for Ano Rectal Malformations and Rare Pelvic Anomalies Marep, Assistance Publique-Hôpitaux De Paris, Université Paris Cité, Paris, France.; Research Unit for Surgery, And Centre of Excellence in Gastrointestinal Diseases and Malformations in Infancy and Childhood (Gain), Odense University Hospital, Odense Denmark, University of Southern Denmark, Odense, Denmark.; Hannover Medical School, Department of Pediatric Surgery, Carl-Neuberg-Straße 1, 30625, Hannover, Germany.; Department of Pediatric Surgery, University of Leipzig, Germany.; Department of Biology, University of Florence and Associazione Famiglie Pazienti Morbo Di Hirschprung (Amorhi), Italy.; Department of Paediatric Surgery, Amsterdam University Medical Centres, the Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.; Department of Pediatric Surgery, Jeanne De Flandre Hospital, Lille, France.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Section of Pediatric Surgery, New Children's Hospital, University of Helsinki, Finland.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Unit of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.

DOI: 10.1016/j.jpedsurg.2024.04.019

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Free resources

Full Text Sources:

https://linkinghub.elsevier.com/retrieve/pii/S0022...

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-BRIP1-5

MeSH Terms: Humans, Infant, Newborn, Consensus, Delphi Technique, Europe, Hirschsprung Disease, Intestines, Interdisciplinary Communication