Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.

Autor: Labib H; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Electronic address: hosnieya.labib@amsterdamumc.nl., Shirinskiy IJ; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Roelofs JJTH; Amsterdam UMC Location University of Amsterdam, Department of Pathology, Meibergdreef 9, Amsterdam, The Netherlands., van der Voorn JP; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Pathology, Boelelaan 1117, Amsterdam, The Netherlands., van Schuppen J; Amsterdam UMC Location University of Amsterdam, Department of Radiology and Nuclear Medicine, Meibergdreef 9, Amsterdam, The Netherlands., Oosterlaan J; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Heurn LWE; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Benninga MA; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Gastroenterology and Nutrition, Meibergdreef 9, Amsterdam, The Netherlands., Derikx JPM; Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Journal of pediatric surgery [J Pediatr Surg] 2024 Nov 13; Vol. 60 (3), pp. 162066. Date of Electronic Publication: 2024 Nov 13.
DOI: 10.1016/j.jpedsurg.2024.162066
Abstrakt: Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.
Methods: Children suspected of HD above the age of six months referred for biopsies were analyzed retrospectively. Severity of complications of rectal suction biopsy (RSB) and full thickness biopsy (FTB) were assessed using Clavien-Madadi (CM) grading. Factors associated with HD were tested using multivariate logistic regression analysis.
Results: From 2000 to 2022, 234 children older than six months of age underwent biopsies because of defecation problems (median age of 47.2 months (IQR = 17.2-87.2)). Of these, 130 out of 234 children underwent RSB and 112 out of 234 children underwent FTB. One patient (0.4 %) developed a complication following RSB (CM1-A): fever without evident cause. Two patients (0.9 %) had ongoing rectal bleeding following FTB. One patient did not require an intervention (CM1-A), the other received rectal spongostan to stop the bleeding and erythrocyte transfusion (CM2). The most frequent final diagnoses were functional constipation (n = 179, 76.5 %), HD (n = 25, 10.6 %) and food intolerance (n = 5, 2.1 %). Associated factors for HD were distended abdomen (OR 5.41, CI 2.05-14.31), vomiting (OR 4.14, CI 1.64-11.85) and no abdominal pain (OR 0.14, CI 0.03-0.65) (model R 2  = 0.278).
Conclusion: In children older than six months suspected of HD, presenting with distended abdomen, vomiting and no abdominal pain, we advise obtaining a rectal biopsy in case other causes of constipation are ruled out, because a rectal biopsy is a safe procedure with only minor complications. The most common diagnosis in patients older than six months of age referred for rectal biopsy was functional constipation.
Level of Evidence: Level III.
Competing Interests: Conflicts of interest None of the authors have any conflicts-of-interest to disclose.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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