Title

Hirschsprung Disease

Document Type

Journal Article

Publication Date

9-1-2020

Journal

Current Treatment Options in Pediatrics

Volume

6

Issue

3

DOI

10.1007/s40746-020-00195-3

Keywords

Aganglionosis; Congenital megacolon; Enterocolitis; Hirschsprung disease; Pull-through

Abstract

© 2020, Springer Nature Switzerland AG. Purpose of review: Hirschsprung disease is an uncommon congenital disorder in which the ganglion cells are missing in the distal colon, resulting in functional obstruction. This article will outline the etiology, diagnosis, surgical treatment, and management of postoperative problems in children with this disease. Recent findings: The most commonly identified genetic mutations are in the RET and endothelin pathways. Diagnostic techniques include contrast enema and anorectal manometry, but definitive diagnosis is based on rectal biopsy. Surgical correction involves excision of the aganglionic bowel and a “pull-through” connecting the normal bowel to the anus. Previously, routine colostomy and laparotomy were used, but currently, most children have a one-stage transanal or laparoscopic approach. The most common postoperative complications are enterocolitis, persistent obstructive symptoms, and soiling, although most children grow out of these problems as they get older. Future advances may include tailoring of surgical and medical treatment according to genetic mutation, and development of techniques to repopulate the aganglionic intestine with ganglion cells. Summary: Hirschsprung disease is surgically correctable, and long-term outcomes are excellent. A clear understanding of potential postoperative problems will assist the primary care physician in helping the child and family to achieve optimal outcomes.

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