{
  "abstract": "Background: Total colon aganglionosis (TCA), a severe form of Hirschsprung disease, is a rare and complex condition with variable management and limited outcome data. This retrospective cross-sectional multicentre study assessed current long-term outcomes of TCA in Europe.\n\nMethods: Patients with TCA under follow up at participating ERNICA and ESPGHAN centres were included. Data were collected on genetics, nutritional, functional, and surgical outcomes, intestinal inflammatory lesions, and mortality during the preceding 10 years.\n\nResults: Thirty-one centres from 15 countries contributed 401 patients (median age 7.9 years; interquartile range 4.0–13.6 years). Genetic testing was performed in 52% of patients, with pathogenic variants identified in 62%, mainly RET. Aganglionosis was limited to the colon in 26%, extended to the small bowel in 71%, and was total intestinal in 3%, without association with genetic status. At the latest follow-up, 25% of patients were receiving parenteral nutrition (PN); PN dependency was associated with small intestine extension of aganglionosis > 50 cm (72% of patients with >50 cm small bowel aganglionosis versus 15% of patients aganglionosis <50 cm small bowel or limited to the colon; P < 0.001). Overall, 77% of patients underwent pull-through, most commonly ileoanal anastomosis (62%) or Duhamel (31%). Complications included anastomotic leak (4%), strictures (12%), redo surgery (24%), recurrent enterocolitis (36%), obstructive symptoms (24%), and faecal incontinence (25%). Recurrent enterocolitis was associated with obstructive symptoms (P = 0.007). Endoscopy showed intestinal inflammatory lesions in 22% of patients, particularly those with recurrent enterocolitis (odds ratio (OR) 6.43; 95% confidence interval (c.i.) 3.27 to 12.63) and obstructive symptoms (OR 2.64; 95% c.i. 1.26 to 5.53). The 10-year mortality rate was 3.4%.\n\nConclusion: TCA shows a high prevalence of genetic abnormalities and substantial postoperative and long-term morbidity, independent of surgical technique.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 46,
  "authors": [
    {
      "name": "Annika Mutanen",
      "orcid": "0000-0003-1575-5601"
    },
    {
      "name": "Alessio Pini Prato"
    },
    {
      "name": "Marta Erculiani"
    },
    {
      "name": "Cécile Lambe",
      "orcid": "0000-0002-0265-8725"
    },
    {
      "name": "Judith Lindert"
    },
    {
      "name": "Stefanie Märzheuser"
    },
    {
      "name": "Fabio Fusaro"
    },
    {
      "name": "Kjetil Juul Stensrud"
    },
    {
      "name": "Kristin Bjornland"
    },
    {
      "name": "Niels Qvist",
      "orcid": "0000-0002-1113-195X"
    },
    {
      "name": "Mark Bremholm Ellebæk"
    },
    {
      "name": "Merit M Tabbers"
    },
    {
      "name": "Joep P M Derikx"
    },
    {
      "name": "Rony Sfeir"
    },
    {
      "name": "Konrad Reinshagen"
    },
    {
      "name": "Johanna Ludwiczek"
    },
    {
      "name": "Lucie Poš"
    },
    {
      "name": "Tereza Bartošová"
    },
    {
      "name": "Marc Miserez"
    },
    {
      "name": "Anna Löf Granström"
    },
    {
      "name": "Tomas Wester"
    },
    {
      "name": "Johannes Hilberath"
    },
    {
      "name": "Arnaud Bonnard"
    },
    {
      "name": "Donatella Di Fabrizio"
    },
    {
      "name": "Anat Guz-Mark"
    },
    {
      "name": "Pierre Poinsot"
    },
    {
      "name": "Katrien Van Renterghem"
    },
    {
      "name": "Francesca Destro"
    },
    {
      "name": "Pernilla Stenström",
      "orcid": "0000-0002-5052-9944"
    },
    {
      "name": "Florian Friedmacher"
    },
    {
      "name": "Udo Rolle"
    },
    {
      "name": "Riccardo Coletta"
    },
    {
      "name": "Antonino Morabito"
    },
    {
      "name": "Francesco Fascetti Leon"
    },
    {
      "name": "Miriam Duci",
      "orcid": "0000-0003-1382-3527"
    },
    {
      "name": "Cornelius E J Sloots"
    },
    {
      "name": "Hendt Versteegh"
    },
    {
      "name": "Domingas Atouguia"
    },
    {
      "name": "Miguel Campos"
    },
    {
      "name": "Inna Spector Cohen"
    },
    {
      "name": "Stanko Cavar"
    },
    {
      "name": "Ivana Sabolic"
    },
    {
      "name": "Xavier Tarrado"
    },
    {
      "name": "Sophie Langer"
    },
    {
      "name": "Lorenzo Norsa",
      "orcid": "0000-0003-3322-2921"
    },
    {
      "name": "Mikko P Pakarinen",
      "orcid": "0000-0001-6016-6334"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/3cjxt1csr9ham.bib",
  "cited_by": 0,
  "doi": "10.1093/bjsopen/zrag143",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13732568/",
  "id": "3cjxt1csr9ham",
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  "language": "en",
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  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
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  "native_subjects": [
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      "AcademicSubjects/MED00910"
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      "heading",
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    [
      "heading",
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      "heading",
      "Original Article"
    ],
    [
      "openalex",
      "2746|Congenital gastrointestinal and neural anomalies"
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  "openalex": "W7225248134",
  "pdf_url": null,
  "pmcid": "PMC13732568",
  "pmid": "42980207",
  "published": "2026-11-04",
  "publisher": "Oxford University Press",
  "ris": "https://research.draconitic.com/paper/3cjxt1csr9ham.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:22:31Z",
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  "subjects": [
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      "field": "medicine",
      "origin": "openalex:2746|Congenital gastrointestinal and neural anomalies",
      "subfield": "surgery"
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  "title": "Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study",
  "title_text": "Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:22:31Z",
  "url": "https://research.draconitic.com/paper/3cjxt1csr9ham",
  "venue": "BJS Open",
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