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Eur J Pediatr Surg 2023; 33(05): 360-366
DOI: 10.1055/s-0043-1760839
Original Article

Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses

Lieke Beltman   *
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
2   Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
4   Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
,
Hosnieya Labib    *
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
4   Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
,
Marit Masselink
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
,
Manouk Backes
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
,
Marc A. Benninga
3   Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
5   Department of Pediatric Gastroenterology and Nutrition, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
,
Joris J.T.H. Roelofs
6   Department of Pathology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
,
J. Patrick van der Voorn
7   Department of Pathology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands
,
Joost van Schuppen
8   Department of Radiology and Nuclear Medicine, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
,
Jaap Oosterlaan
2   Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
4   Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
,
L.W. Ernest van Heurn
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
4   Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
,
Joep P.M. Derikx
1   Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
3   Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, the Netherlands
4   Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
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Abstract

Background The gold standard for diagnosing Hirschsprung disease (HD) in patients younger than 6 months is pathological examination of rectal suction biopsy (RSB). The aim of this study was to gain insight into the following: (1) complications following RSB, (2) final diagnosis of patients referred for RSB, and (3) factors associated with HD.

Methods Patients suspected of HD referred for RSB at our center were analyzed retrospectively. Severity of complications of RSB was assessed using Clavien–Dindo (CD) grading. Factors associated with HD were tested using multivariate logistic regression analysis.

Results From 2000 to 2021, 371 patients underwent RSB because of infrequent defecation, at a median age of 44 days. Three patients developed ongoing rectal bleeding (0.8%) graded CD1. Most frequent final diagnoses were: HD (n = 151, 40.7%), functional constipation (n = 113, 31%), idiopathic meconium ileus (n = 11, 3%), and food intolerance (n = 11, 3%). Associated factors for HD were male sex (odds ratio [OR], 3.19; confidence interval [CI], 1.56–6.53), presence of syndrome (OR, 7.18; CI, 1.63–31.69), younger age at time of RSB (OR, 0.98; CI, 0.85–0.98), meconium passage for more than 48 hours (OR, 3.15; CI, 1.51–6.56), distended abdomen (OR, 2.09; CI, 1.07–4.07), bilious vomiting (OR, 6.39; CI, 3.28–12.47), and failure to thrive (OR, 8.46; CI, 2.11–34.02) (model R 2 = 0.566).

Conclusion RSB is a safe procedure with few and only minor complications. In the majority of patients referred for RSB under the age of 6 months, HD was found followed by a functional cause for the defecation problems. RSB should be obtained on a low threshold in all patients under the age of 6 months with the suspicion of HD.

Keywords

Hirschsprung disease - rectal suction biopsy - complications - associated factors - differential diagnosis

* These authors contributed equally and retain the first authorship.


Supplementary Material



Publication History

Received: 26 September 2022

Accepted: 04 November 2022

Article published online:
01 February 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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