Intractable Rare Dis Res. 2025;14(4):258-265. (DOI: 10.5582/irdr.2025.01080)

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine

Yang LC, Wang Y, Yuan LW, Tang W


SUMMARY

Congenital and hereditary intestinal diseases are a group of major disorders caused by gene mutations or embryonic developmental anomalies and are characterized by diverse clinical manifestations and complex management. This review systematically explores the molecular genetic basis and pathogenic mechanisms of common intestinal diseases, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Lynch syndrome (LS), Hirschsprung disease (HSCR), congenital short bowel syndrome (SBS), and cystic fibrosis (CF). It focuses on cross-disease commonalities in translational research frontiers such as gene-environment interactions, organoid-based precision medicine, the immune microenvironment, and metabolic and microbiome remodeling. The review also forecasts future directions, including gene therapy, targeted drugs, and other cutting-edge research advances.


KEYWORDS: congenital intestinal diseases, hereditary gastrointestinal disorders, precision medicine, organoid models

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