The role of gut microbiota in Hirschsprung’s disease: from pathogenic mechanisms to microbiota-targeted therapies

Hirschsprung's disease (HSCR) is a common congenital disorder characterized by abnormal enteric nervous system development. Recent studies have demonstrated that gut microbiota and their metabolites play a significant role in the pathogenesis of HSCR. This review systematically examines the interplay between gut dysbiosis and pathophysiological alterations in HSCR, including disruptions in microbial composition, aberrant metabolite profiles, impaired intestinal barrier function, and dysregulated neuro-immune modulation. Research indicates that HSCR patients exhibit a characteristic gut microbial imbalance, which may influence the development and function of the enteric nervous system by altering the intestinal microenvironment, including metabolic profiles and immune status. Furthermore, this review explores the potential therapeutic value of microbiota-targeted interventions, such as probiotics and fecal microbiota transplantation (FMT), in HSCR treatment, providing a theoretical foundation for novel therapeutic strategies. These findings not only enhance the understanding of HSCR pathogenesis but also offer new perspectives for clinical prevention and treatment.

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Publication Details

Journal
PeerJ
Published
2026-02-24
DOI
https://doi.org/10.7717/peerj.20854
Primary Topic
Congenital gastrointestinal and neural anomalies
Type
article
Field-Weighted Citation Impact
0.00
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article

The role of gut microbiota in Hirschsprung’s disease: from pathogenic mechanisms to microbiota-targeted therapies

Dehong Chen, Kaiwen Qi, Yuan Zhao
PeerJ
Congenital gastrointestinal and neural anomalies
article

The role of gut microbiota in Hirschsprung’s disease: from pathogenic mechanisms to microbiota-targeted therapies

Dehong Chen, Kaiwen Qi, Yuan Zhao
article en

Abstract

Hirschsprung's disease (HSCR) is a common congenital disorder characterized by abnormal enteric nervous system development. Recent studies have demonstrated that gut microbiota and their metabolites play a significant role in the pathogenesis of HSCR. This review systematically examines the interplay between gut dysbiosis and pathophysiological alterations in HSCR, including disruptions in microbial composition, aberrant metabolite profiles, impaired intestinal barrier function, and dysregulated neuro-immune modulation. Research indicates that HSCR patients exhibit a characteristic gut microbial imbalance, which may influence the development and function of the enteric nervous system by altering the intestinal microenvironment, including metabolic profiles and immune status. Furthermore, this review explores the potential therapeutic value of microbiota-targeted interventions, such as probiotics and fecal microbiota transplantation (FMT), in HSCR treatment, providing a theoretical foundation for novel therapeutic strategies. These findings not only enhance the understanding of HSCR pathogenesis but also offer new perspectives for clinical prevention and treatment.

PeerJVol. 14
Jinan Maternity And Care Hospital (CN)
Good health and well-being
Openalex Percentile: Top 45%
Congenital gastrointestinal and neural anomalies
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