Updated European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies guidelines for the management of rectosigmoid Hirschsprung's disease 2025.

OBJECTIVES

To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency in care.

METHODS

The update followed a structured five-step process: identifying new evidence (2018-2024), prioritizing recommendations using the Update Priority Tool, and revising selected topics using the Grading of Recommendations Assessment, Development and Evaluation-Evidence to Decision (GRADE EtD) framework. A multidisciplinary panel of pediatric surgeons, patient representatives, and methodologists from 12 countries oversaw the process. Revised recommendations were developed through evidence review and consensus meetings.

RESULTS

Ten prioritized clinical topics were revised. Key updates include refined recommendations on histopathological staining in diagnosis, preoperative screening for renal anomalies and malnutrition, postoperative anastomotic calibration, individualized dietary guidance, sexual and fertility health during follow-up, transition to adult care, and the role of botulinum toxin in managing Hirschsprung's-associated enterocolitis (HAEC). Routine preventive anal dilatations were no longer recommended. The guideline highlights the importance of structured, multidisciplinary, and patient-centered care throughout the lifespan and identifies several research gaps, including nutrition, transition of care, fertility, and HAEC definitions.

CONCLUSION

This updated guideline reflects current evidence and expert consensus, supporting equitable, patient-centered HSCR care. Implementation will be supported via the European Pediatric Surgical Audit (EPSA), and future updates will be informed by registry data and ongoing research.