Established and emerging concepts in Hirschsprung's-associated enterocolitis

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Immunology

Background:

• Hirschsprung's disease (HSCR) is a leading cause of neonatal bowel obstruction.
• Hirschsprung's-associated enterocolitis (HAEC) significantly contributes to morbidity and mortality in HSCR patients.
• Current HAEC treatment guidelines have remained unchanged for decades.

Purpose of the Study:

• To review the current understanding of HAEC epidemiology, diagnosis, and treatment.
• To explore emerging concepts in HAEC pathogenesis, including genetic susceptibility, mucosal immunity, and microbiome dysbiosis.
• To discuss novel therapeutic strategies for HAEC.

Main Methods:

• Review of established literature on HSCR and HAEC.
• Analysis of recent translational studies and animal models of HAEC.
• Exploration of genetic, immunological, and microbiological factors implicated in HAEC.

Main Results:

• HAEC remains a significant clinical challenge with high morbidity and mortality.
• Animal models and translational studies highlight the roles of mucosal immunity and microbiome dysbiosis in HAEC.
• Genetic factors and altered intestinal microbiome are increasingly recognized in HAEC development.

Conclusions:

• Further research into HAEC pathogenesis is crucial for developing improved treatment strategies.
• Understanding the interplay between genetics, immunity, and the microbiome is key to addressing HAEC.
• Novel therapeutic modalities are needed to reduce the burden of HAEC in Hirschsprung's disease patients.