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Updated: Jul 13, 2025
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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
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Hirschsprung disease
Louise Montalva1,2,3, Lily S Cheng4,5, Raj Kapur6
1Department of Paediatric Surgery, Robert-Debré Children's University Hospital, Paris, France. louise.montalva@aphp.fr.
Nature Reviews. Disease Primers
|October 12, 2023
Summary
Hirschsprung disease (HSCR) is a rare congenital intestinal condition affecting newborns. Diagnosis involves imaging and biopsy, with surgical removal of affected bowel offering the primary treatment.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Genetics
Background:
- Hirschsprung disease (HSCR) is a congenital intestinal disorder affecting 1 in 5,000 live births.
- Characterized by the absence of nerve cells (ganglion cells) in the intestinal wall, leading to functional obstruction.
- Often presents neonatally with delayed meconium passage, abdominal distension, and vomiting.
Purpose of the Study:
- To provide a comprehensive overview of Hirschsprung disease.
- To detail current diagnostic and surgical management strategies.
- To highlight associated syndromes, genetic factors, and future research directions.
Main Methods:
- Diagnosis relies on contrast enema to identify the transition zone and rectal biopsy for confirmation.
- Surgical management involves removing the aganglionic segment and reconnecting healthy bowel to the anus.
- Surgical approaches include Swenson, Soave, and Duhamel procedures, with options for laparoscopic assistance.
Main Results:
- HSCR is associated with syndromes like trisomy 21 and involves genes such as RET and EDNRB.
- Surgical success aims to restore bowel continuity and preserve sphincter function.
- Potential comorbidities include obstructive symptoms, enterocolitis, and soiling.
Conclusions:
- Continued research into HSCR mechanisms is crucial for advancing diagnostic and therapeutic innovations.
- Improving understanding of HSCR pathogenesis will enhance patient outcomes.
- Multidisciplinary approaches are essential for managing this complex congenital condition.
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