Advances in research on congenital and hereditary intestinal diseases: From
molecular mechanisms to precision medicine
#MMPMID41341909
Yang L
; Wang Y
; Yuan L
; Tang W
Intractable Rare Dis Res
2025[Nov]; 14
(4
): 258-265
PMID41341909
show ga
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.