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Hirschsprung disease

Key sources
The following summarized guidelines for the evaluation and management of hirschsprung disease are prepared by our editorial team based on guidelines from the European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA 2020).
1

Guidelines

1.Screening and diagnosis

Diagnosis: diagnose Hirschsprung's disease based on representative rectal histology. Confirm the diagnosis before performing pull-through surgery.
B
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2.Diagnostic investigations

Genetic analysis
Consider obtaining genetic testing of RET in patients with non-syndromic Hirschsprung's disease.
C
Refer patients with syndromic Hirschsprung's disease for genetic consultation and screening for the specific gene associated with the syndromic phenotype.
B

3.Diagnostic procedures

Rectal biopsy: perform rectal biopsy if the clinical history and physical signs are suggestive of Hirschsprung's disease.
B
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4.Perioperative care

Pre-operative management: administer rectal saline irrigations 1-3 times daily to decompress the bowel until the definitive pull-through surgery.
B
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  • Post-operative management

5.Surgical interventions

Pull-through surgery, indications: perform pull-through surgery in stable and well-growing patients with Hirschsprung's disease, if the bowel has been sufficiently decompressed.
B

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  • Pull-through surgery (technical considerations)

  • Pull-through surgery (setting)

6.Specific circumstances

Patients with Hirschsprung's associated enterocolitis: suspect the diagnosis of Hirschsprung's associated enterocolitis in patients with explosive diarrhea, foul-smelling stool and/or HAEC score of ≥ 4.
B
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7.Follow-up and surveillance

Management of persistent fecal incontinence: consider evaluating pediatric patients > 4 years old with fecal incontinence and normal intellectual development, including:
elicit stooling history and pattern to evaluate for tendency to constipation or diarrhea, and involuntary passage of flatus
elicit dietary history and growth
perform examination under anesthesia with or without anorectal manometry to assess the integrity of the anal canal, sphincter complex and dentate line, and for the presence of rolled muscle cuff, stricture or rectal spur
obtain contrast enema to evaluate for colonic dilatation, rectal spur, constipation, or a twisted pull-through
with or without obtaining endorectal ultrasound to assess for sphincter defects
B
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  • Management of persistent obstructive symptoms

  • Long-term follow-up