Persistent bowel dysfunction after surgery for Hirschsprung’s disease: A neuropathological perspective

Verkuijl, Sanne J.; Friedmacher, Florian; Harter, Patrick N.; Rolle, Udo; Broens, Paul M. A.

doi:10.4240/wjgs.v13.i8.822

Cited by 4 publications

(3 citation statements)

References 89 publications

(151 reference statements)

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“…Outlet obstruction characterized by the persistent absence of the rectoanal inhibitory reflex (RAIR) can be a functional symptom after an otherwise successful pull-through. However, mechanical complications such as twist, stricture or persistent aganglionosis should be ruled out and, if present, appropriately treated [17][18][19][20].…”

Section: (C) Overcoming Outlet Obstructionmentioning

confidence: 99%

Bowel Management in Hirschsprung Disease—Pre-, Peri- and Postoperative Care for Primary Pull-Through

Lindert,

Schulze,

Märzheuser

2024

Children

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(1) Background: Bowel management contributes throughout the pathway of care for children with Hirschsprung. Preoperative bowel management prepares the child and family for the pull-through surgery. Perioperative bowel management supports early recovery and tailored bowel management in the follow-up supports the achievement of social continence. (2) Methods: We conducted a cross-sectional assessment of our institutional bowel management program to illustrate the pre-, peri- and postoperative bowel management strategies. (3) Results: A total of 31 children underwent primary pull-through, 23 without a stoma and 8 with a stoma, at a median age of 9 months. All children without a stoma were prepared for surgery by using rectal irrigations. Children with a stoma were prepared for surgery with a transfer of stoma effluent. Transanal irrigation supported early recovery. (4) Conclusions: Bowel management is a key pillar of the management of children with Hirschsprung disease. Incorporating bowel management in the pathway of care facilitates primary pull-through and supports perioperative recovery.

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Section: (C) Overcoming Outlet Obstructionmentioning

confidence: 99%

Bowel Management in Hirschsprung Disease—Pre-, Peri- and Postoperative Care for Primary Pull-Through

Lindert,

Schulze,

Märzheuser

2024

Children

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“…In both cases, they significantly impact the physical and psychological well-being of the patients. Around 22%-33% of adults who have undergone surgery continue to struggle with constipation, while about 9%-19% of adults still experience fecal incontinence [22]. Postoperative care and longterm follow-up of patients are important.…”

Section: Treatment and Prognosismentioning

confidence: 99%

Hirschsprung's Disease - Review of Clinical Features, Diagnosis and Treatment

Tkaczyk,

Świątek,

Tomczyk

et al. 2023

J Educ Health Sport

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Introduction and purpose: Hirschsprung's disease, also known as congenital aganglionic megacolon, is a rare congenital disorder that affects the large intestine. Due to the absence of ganglion cells, the affected segment of the colon becomes narrow and unable to relax. The disease is present from birth but may not always be immediately apparent. In this paper, we will attempt to present the current state of knowledge regarding the diagnosis and treatment of Hirschsprung's disease, based on the analysis of literature available on the PubMed platform. Description of the state of knowledge: Hirschsprung's disease (HSCR), also known as congenital aganglionosis of the colon, involves abnormal migration, proliferation, and differentiation of neural crest cells, leading to the absence of autonomic nerve ganglia within the colon. HSCR is associated with mutations in several genes, with RET, GDNF, EDNRB and SOX10 being identified as the main causes of the disease. Mutations in the RET gene are associated with the hereditary form of Hirschsprung's disease. Symptoms of HSCR appear in newborns and may include bilious vomiting, diarrhea associated with enterocolitis, failure to pass meconium within the first 24 hours of life, impaired peristalsis, jaundice, feeding difficulties, and progressive abdominal distension. Summary: Diagnosis is typically made based on clinical presentation, imaging studies, and biopsy. Treatment usually involves surgery to remove the affected segment of the colon and reconnect the healthy portions. Although postoperative complications are relatively common, long-term studies suggest that the majority of children with Hirschsprung's disease function well in society.

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“…This potentially life-threatening condition necessitates the immediate surgical removal of aganglionic bowel and reattachment of the 'normal' ganglionic bowel that is innervated by the ENS. Unfortunately, even after surgical treatment many children with HSCR continue to suffer from bowel dysmotility (e.g., constipation, incontinence) and enterocolitis (1,(4)(5)(6)(7)(8)(9)(10), suggesting that the remaining bowel is not normal despite the presence of ENS ganglia. To better treat post-surgical bowel complications in HSCR patients, we need to know the extent that HSCR-mutations alter the structure and function of the ENS in the remaining portions of bowel that have been presumed to be normal.…”

Section: Introductionmentioning

confidence: 99%

Abnormal enteric nervous system and motor activity in the ganglionic proximal bowel of Hirschsprung’s disease

Edwards

Stiglitz

Davis

et al. 2023

Preprint

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Hirschsprung disease (HSCR) is a congenital defect in which the enteric nervous system (ENS) does not develop in the distal bowel, requiring surgical removal of the portions of bowel without ENS ganglia (aganglionic) and reattachment of the normal proximal bowel with ENS ganglia. Unfortunately, many HSCR patients have persistent dysmotility (e.g., constipation, incontinence) and enterocolitis after surgery, suggesting that the remaining bowel is not normal despite having ENS ganglia. Anatomical and neurochemical alterations have been observed in the ENS-innervated proximal bowel from HSCR patients and mice, but no studies have recorded ENS activity to define the circuit mechanisms underlying post-surgical HSCR dysfunction. Here, we generated a HSCR mouse model with a genetically-encoded calcium indicator to map the ENS connectome in the proximal colon. We identified abnormal spontaneous and synaptic ENS activity in proximal colons from GCaMP-Ednrb-/- mice with HSCR that corresponded to motor dysfunction. Many HSCR-associated defects were also observed in GCaMP-Ednrb+/- mice, despite complete ENS innervation. Results suggest that functional abnormalities in the ENS-innervated bowel contribute to post-surgical bowel complications in HSCR patients, and HSCR-related mutations that do not cause aganglionosis may cause chronic colon dysfunction in patients without a HSCR diagnosis.

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Persistent bowel dysfunction after surgery for Hirschsprung’s disease: A neuropathological perspective

Cited by 4 publications

References 89 publications

Bowel Management in Hirschsprung Disease—Pre-, Peri- and Postoperative Care for Primary Pull-Through

Bowel Management in Hirschsprung Disease—Pre-, Peri- and Postoperative Care for Primary Pull-Through

Hirschsprung's Disease - Review of Clinical Features, Diagnosis and Treatment

Abnormal enteric nervous system and motor activity in the ganglionic proximal bowel of Hirschsprung’s disease

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