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A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders
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- M.G. Schäppi
- Pediatric Center Clinique des Grangettes, and Centre Médical Universitaire Geneva Switzerland
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- A. Staiano
- Department of Translational Medical Science Section of Pediatrics University of Naples “Federico II,” Naples Italy
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- P.J. Milla
- Departments of Gastroenterology and Histopathology UCL Institute of Child Health and Great Ormond Street Hospital London UK
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- V.V. Smith
- Departments of Gastroenterology and Histopathology UCL Institute of Child Health and Great Ormond Street Hospital London UK
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- J.A. Dias
- Department of Paediatrics Hospital S. João Porto Portugal
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- R. Heuschkel
- Department of Paediatric Gastroenterology Addenbrookes Hospital Cambridge UK
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- S. Husby
- Hans Christian Andersen Children's Hospital OUH Odense Denmark
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- M.L. Mearin
- Department of Paediatrics Leiden University Medical Center Leiden The Netherlands
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- A. Papadopoulou
- First Department of Paediatrics University of Athens Children's Hospital “Agia Sofia,” Athens Greece
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- Yvan Vandenplas
- UZ Brussel Vrije Universiteit, Brussel Brussels Belgium
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- S. Koletzko
- Dr vonHaunersches Kinderspital Ludwig‐Maximilians‐University Munich Germany
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Description
<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objective:</jats:title><jats:p>Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill‐defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age‐related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.</jats:p></jats:sec>
Journal
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- Journal of Pediatric Gastroenterology and Nutrition
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Journal of Pediatric Gastroenterology and Nutrition 57 (5), 677-686, 2013-11
Wiley
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Details 詳細情報について
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- CRID
- 1363107368942461056
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- ISSN
- 15364801
- 02772116
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- Data Source
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- Crossref