Causes and consequences: development and pathophysiology of Hirschsprung disease
Hirschsprung disease (HSCR) is a congenital enteric neuropathy in which the enteric nervous system (ENS) fails to develop along variable lengths of the distal gastrointestinal (GI) tract. This aganglionosis results in a functional bowel obstruction and requires surgical resection of the aganglionic...
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2024-11-01
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| Series: | World Journal of Pediatric Surgery |
| Online Access: | https://wjps.bmj.com/content/7/4/e000903.full |
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| author | Alan J Burns Allan M Goldstein |
| author_facet | Alan J Burns Allan M Goldstein |
| author_sort | Alan J Burns |
| collection | DOAJ |
| description | Hirschsprung disease (HSCR) is a congenital enteric neuropathy in which the enteric nervous system (ENS) fails to develop along variable lengths of the distal gastrointestinal (GI) tract. This aganglionosis results in a functional bowel obstruction and requires surgical resection of the aganglionic segment. Despite surgery, however, long-term bowel dysfunction affects many patients. Understanding the embryologic causes and pathophysiologic consequences of HSCR is critical to improving its diagnosis and treatment. During normal gut development, the ENS arises from neural crest cells (NCCs) that delaminate from the neural tube to populate the entire GI tract with enteric neurons and glia. This process requires NCCs to undergo proliferation, migration and differentiation to form the complex neuroglial network that regulates gut motility and other intestinal functions. This review discusses the cellular and molecular processes that control normal ENS formation and what goes awry to give rise to HSCR. The complex pathophysiologic consequences of aganglionosis are discussed, including recent observations that describe novel aspects of HSCR beyond the absence of ganglion cells. This review aims to expand the understanding of HSCR and to stimulate new ideas on how to improve current management of the disease. |
| format | Article |
| id | doaj-art-80529e075a6a4da99dafe82512168da3 |
| institution | Kabale University |
| issn | 2516-5410 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | World Journal of Pediatric Surgery |
| spelling | doaj-art-80529e075a6a4da99dafe82512168da32024-12-07T10:05:09ZengBMJ Publishing GroupWorld Journal of Pediatric Surgery2516-54102024-11-017410.1136/wjps-2024-000903Causes and consequences: development and pathophysiology of Hirschsprung diseaseAlan J Burns0Allan M Goldstein1Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USADepartment of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USAHirschsprung disease (HSCR) is a congenital enteric neuropathy in which the enteric nervous system (ENS) fails to develop along variable lengths of the distal gastrointestinal (GI) tract. This aganglionosis results in a functional bowel obstruction and requires surgical resection of the aganglionic segment. Despite surgery, however, long-term bowel dysfunction affects many patients. Understanding the embryologic causes and pathophysiologic consequences of HSCR is critical to improving its diagnosis and treatment. During normal gut development, the ENS arises from neural crest cells (NCCs) that delaminate from the neural tube to populate the entire GI tract with enteric neurons and glia. This process requires NCCs to undergo proliferation, migration and differentiation to form the complex neuroglial network that regulates gut motility and other intestinal functions. This review discusses the cellular and molecular processes that control normal ENS formation and what goes awry to give rise to HSCR. The complex pathophysiologic consequences of aganglionosis are discussed, including recent observations that describe novel aspects of HSCR beyond the absence of ganglion cells. This review aims to expand the understanding of HSCR and to stimulate new ideas on how to improve current management of the disease.https://wjps.bmj.com/content/7/4/e000903.full |
| spellingShingle | Alan J Burns Allan M Goldstein Causes and consequences: development and pathophysiology of Hirschsprung disease World Journal of Pediatric Surgery |
| title | Causes and consequences: development and pathophysiology of Hirschsprung disease |
| title_full | Causes and consequences: development and pathophysiology of Hirschsprung disease |
| title_fullStr | Causes and consequences: development and pathophysiology of Hirschsprung disease |
| title_full_unstemmed | Causes and consequences: development and pathophysiology of Hirschsprung disease |
| title_short | Causes and consequences: development and pathophysiology of Hirschsprung disease |
| title_sort | causes and consequences development and pathophysiology of hirschsprung disease |
| url | https://wjps.bmj.com/content/7/4/e000903.full |
| work_keys_str_mv | AT alanjburns causesandconsequencesdevelopmentandpathophysiologyofhirschsprungdisease AT allanmgoldstein causesandconsequencesdevelopmentandpathophysiologyofhirschsprungdisease |