Hirschsprung's disease: a review

Abstract

Hirschsprung disease (HD) is a congenital condition that affects intestinal function due to the absence of ganglion cells in the myenteric and submucosal plexus of the colon. This absence causes difficulty in intestinal relaxation and, consequently, normal intestinal evacuation, resulting in severe constipation from birth or early childhood. At the genetic level, mutations have been identified in genes such as RET, involved in the migration and differentiation of neural crest cells. The diagnosis is based on rectal biopsies that show the absence of ganglion cells. The main treatment is surgical, with techniques such as rectosigmoidectomy or pull-through to restore intestinal function. Despite advances, patients can experience complications such as fecal incontinence. Multidisciplinary management is crucial to improve the patient's quality of life.