- •Introduction
- •Epidemiology
- •Risk factors
- •Sex distribution
- •Maternal factors
- •Ethnicity
- •Intestinal segment length
- •Preterm infants
- •Associated syndromes
- •Family history
- •Associated congenital anomalies
- •Mechanisms/pathophysiology
- •Enteric nervous system development
- •Signalling pathways in HSCR
- •Role of extracellular matrix in HSCR
- •Genetic factors
- •Variants, partial penetrance and epigenetics
- •Disease models
- •Diagnosis, screening and prevention
- •Clinical presentation
- •Diagnosis
- •Rectal biopsy
- •Histopathological evaluation
- •Differential diagnosis
- •Management
- •Preoperative management
- •Surgical treatment
- •Optimal timing of surgery
- •Single-stage versus multistage surgery
- •Optimal surgical approach and technique
- •Determining the extent of aganglionosis
- •Levelling biopsies and intraoperative pathology
- •Postoperative surgical pathology
- •Postoperative complications
- •Postoperative HAEC
- •Quality of life
- •Outlook
- •Genetics and genomics
- •Diagnosis
- •Treatment
- •Patient-centred research
- •Acknowledgements
Primer
aObstructive symptoms after pull-through
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Rectal examination and contrast enema |
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No mechanical obstruction |
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Stricture, twist, other mechanical obstruction |
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Pathology review of original |
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pull-through resection |
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Rectal biopsy |
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Dilation or revisional surgery |
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Aganglionosis or evidence of transition zone pull-through |
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No signi„icant neuromuscular pathology |
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Redo pull-through |
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Botulinum toxin injection |
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Clinical improvement
Repeat botulinum toxin as needed
Botulinum toxin injections
• Inject in four quadrants of anal sphincter
• Repeat every 3-6 months if needed
bSoiling after pull-through
History and physical examination
± rectal examination under anaesthesia
± anorectal manometry
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No clinical improvement |
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Motility workup |
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Normal |
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Abnormal (generalized) |
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Abnormal (focal) |
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Bowel management, stoma or ACE |
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procedure |
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Colonic resection |
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Sensation and sphincter function intact and good overall potential for bowel control
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Yes |
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No |
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Pseudo-incontinence |
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True incontinence |
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Contrast enema ± colonic manometry |
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Obstruction |
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Hypermotility |
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Investigate and rule out correctable causes of obstruction |
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• Constipating diet |
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• High-„ibre diet |
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No correctable cause identi„ied |
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• Anti-motility agents |
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• High-„ibre diet, stimulant laxatives |
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• Stool softeners as needed to maintain soft but solid stools |
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Soiling persists |
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Soiling persists |
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Enema programme or ostomy |
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Determining the extent of aganglionosis
Levelling biopsies and intraoperative pathology. The main goal of any surgical approach for HSCR is to remove the aganglionic segment and transition zone. The first step is to perform levelling biopsies to provide small samples of the bowel wall, either seromuscular or full-thickness, for examination to determine the presence or absence of ganglion cells. Biopsies should be well-oriented and adequately sectioned to confidently exclude ganglion cells and, if necessary, the process is repeated in a proximal direction until ganglion cells
are found. However, the presence of ganglion cells in a biopsy does not necessarily exclude the existence of a transition zone if partial circumferential aganglionosis, myenteric hypoganglionosis and/or submucosal nerve hypertrophy exist127. In short-segment HSCR, the transition zone is usually <5 cm, so resection or ostomy >5 cm proximal to a ganglionic biopsy usually encompasses the entire transition zone. However, in long-segment HSCR, the transition zone can be much longer. The use of appendectomy to diagnose total colonic aganglionosis is controversial, as aganglionic appendix in healthy neonates
Nature Reviews Disease Primers | |
(2023) 9:54 |
12 |