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Updated: Jun 11, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

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's disease

Simon E Kenny1, Paul K H Tam, Mercè Garcia-Barcelo

  • 1Department of Paediatric Surgery, Alder Hey Children's NHS Foundation Trust, Liverpool, UK. simon.kenny@liv.ac.uk

Seminars in Pediatric Surgery
|July 9, 2010
PubMed

Insights

Hirschsprung's disease (HSCR) is a congenital condition where the enteric nervous system is absent in the distal gut. Understanding its genetic and developmental basis offers future hope for affected infants.

Area of Science:

  • Developmental biology
  • Gastroenterology
  • Genetics

Background:

  • Hirschsprung's disease (HSCR) involves the absence of the enteric nervous system in the distal bowel.
  • Infants with HSCR typically present with bowel obstruction shortly after birth.
  • Current surgical treatments for HSCR have variable long-term outcomes.

Purpose of the Study:

  • To synthesize recent advances in understanding HSCR.
  • To elucidate the developmental and molecular basis of Hirschsprung's disease.
  • To explore future therapeutic applications for children with HSCR.

Main Methods:

  • Review of recent scientific literature on HSCR.
  • Analysis of genetic and molecular mechanisms underlying HSCR.
  • Examination of normal enteric nervous system development and fetal motility.

Main Results:

  • Significant progress has been made in identifying genes and molecular pathways involved in HSCR.
  • Enhanced understanding of fetal gut development and motility has been achieved.
  • The review integrates genetic, developmental, and clinical aspects of HSCR.

Conclusions:

  • Knowledge of HSCR's developmental and biological underpinnings is rapidly advancing.
  • This integrated understanding holds potential for improved future treatments for HSCR.
  • Further research can translate biological insights into clinical benefits for affected children.

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