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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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Evaluation of diagnostic factors used to refer children with constipation for rectal biopsies
Emilie G Jaroy1,2, Ragnhild Emblem3,4, Henrik M Reims5
1Department of Pediatric Surgery, Oslo University Hospital, 0424, Rikshospitalet, Norway. emiliejar@live.no.
Insights
Rectal biopsies for Hirschsprung's disease in children are often unnecessary. Key indicators for Hirschsprung's disease include male sex, failure to thrive, abdominal distention, vomiting, and Rome 4 criteria for constipation.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Diagnostics
Background:
- Constipation in children often leads to referrals for rectal biopsy to rule out Hirschsprung's disease.
- Rectal biopsy is an invasive procedure, necessitating careful patient selection to avoid unnecessary interventions.
Purpose of the Study:
- To identify clinical and demographic factors predictive of Hirschsprung's disease in constipated children undergoing rectal biopsy.
- To reduce the rate of unnecessary rectal biopsies in pediatric patients.
Main Methods:
- A retrospective review of 225 constipated children (aged 0-17 years) who underwent rectal biopsy between 2013-2018.
- Correlation and multivariate regression analyses were used to assess factors associated with a Hirschsprung's disease diagnosis.
Main Results:
- Hirschsprung's disease was diagnosed in only 22% of children (49/225).
- Predictive factors for Hirschsprung's disease in children over 1 month included male sex, failure to thrive, abdominal distention with vomiting, and meeting Rome 4 criteria for functional constipation.
- The disease was less prevalent in girls, particularly those over 6 months old.
Conclusions:
- Male sex, failure to thrive, abdominal distention with vomiting, and Rome 4 constipation criteria are strong indicators for Hirschsprung's disease in children referred for biopsy.
- The likelihood of Hirschsprung's disease decreases with age, and it is rare in girls over 1 month of age.
Purpose:
Children with constipation and suspected Hirschsprung's disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of "unnecessary" biopsies.
Methods:
We reviewed all constipated children who underwent a rectal biopsy to diagnose a possible Hirschsprung's disease at a tertiary referral hospital over a 6-year period (2013-2018). We registered clinical and demographic factors in these children and conducted correlation and multivariate regression analysis to evaluate the relation between these factors and a diagnosis of Hirschsprung's disease.
Results:
We identified 225 children, aged 0-17 years. In total, Hirschsprung's disease was diagnosed in only 49/225 (22%). Among the 49 children with Hirschsprung's disease, 29 (59%) were diagnosed in the neonatal period. Among girls, HD was confirmed in only 10/101 (10%) children, and only 1 of these 10 girls was older than 6 months at the time of the biopsy. The following factors correlated significantly with Hirschsprung's disease diagnosis in children older than 1 month: "male sex", "failure to thrive", "gross abdominal distention plus vomiting" and "fulfils the Rome 4 criteria for functional constipation".
Conclusion:
In children referred for rectal biopsy, the factors most indicative of Hirschsprung's disease were "male sex", "failure to thrive", "gross abdominal distention plus vomiting" and "fulfils the Rome 4 criteria for functional constipation". Notably, the prevalence of Hirschsprung's disease decreased with the increasing age of the children. Girls referred for a biopsy rarely had Hirschsprung's disease, especially those older than 1 month.
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