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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Hirschsprung disease and Paediatric Intestinal Pseudo-obstruction
Atchariya Chanpong1, Osvaldo Borrelli2, Nikhil Thapar3
1Neurogastroenterology & Motility Unit, Gastroenterology Department, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110, Thailand; Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, United Kingdom.
Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) are severe GI motility disorders. Diagnosis relies on histopathology, but advances in manometry and genetics offer new diagnostic tools, while surgery remains key for treatment.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Genetics
Background:
- Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) are severe gastrointestinal (GI) motility disorders.
- HSCR is a congenital enteric nervous system disorder affecting the large intestine.
- PIPO involves congenital disorders of the GI neuromusculature, affecting the GI tract more broadly.
Purpose of the Study:
- To review diagnostic and management strategies for HSCR and PIPO.
- To highlight advancements in diagnostic modalities beyond histopathology.
- To discuss current and future therapeutic approaches for these conditions.
Main Methods:
- Review of current literature on HSCR and PIPO diagnosis and management.
- Analysis of advancements in manometric and genetic studies.
- Evaluation of surgical and novel therapeutic interventions.
Main Results:
- Histopathology remains the gold standard for diagnosing HSCR and PIPO.
- Manometric and genetic studies show increasing diagnostic utility.
- Surgery is the primary treatment for HSCR and essential for PIPO management.
Conclusions:
- Multidisciplinary management in specialist centers is crucial for PIPO.
- Surgical intervention is vital for optimizing intestinal function in both HSCR and PIPO.
- Neural stem cell transplantation presents a promising future therapy for GI motility disorders.
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