Enteric nervous system deficits in the ganglionated bowel of Hirschsprung mouse models and patients.

Abstract

Hirschsprung disease, or congenital absence of ganglia in the distal intestine, occurs in approximately every 1 in 5000 live births. Although HSCR patients have the aganglionic portion of their colon removed, many suffer from adverse outcomes post-surgery such as chronic constipation or Hirschsprung-associated enterocolitis (HAEC). Herein, we demonstrate that deficits in the ganglionated portions of the bowel in HSCR mouse models could account for these unwanted outcomes in HSCR patients. Promising preliminary findings in a HSCR cohort may aid in further defining factors affecting HSCR patient health long term.