The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease

Study Overview
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Brief Summary
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This study aims to compare the outcomes of patients with long segment Hirschsprung disease or total colonic aganglionosis who had negative calretinin staining and positive ganglion cells on the proximal resection margins to those who had both positive findings.

Official Title
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The Association Between Calretinin and the Function of Ganglion Cells in Long Segment and Total Hirschsprung Disease

Conditions
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Hirschsprung Disease, Ganglion, Hirschsprung Disease, Long-Segment, Hypoganglionosis

Intervention / Treatment
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* Diagnostic Test: Calretinin staining


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Confirmed histopathological diagnosis of Hirschsprung disease from January 1, 1990 to August 31, 2019 Long-segment Hirschsprung disease (type A and B) Total colonic aganglionosis (TCA) Surgery at CHUSJ Tissue blocks of proximal resection margin available for pathological analysis Minimum 1 month of postoperative follow-up Exclusion Criteria: Short-segment Hirschsprung disease (conventional form, rectosigmoid junction) Total colonic with small bowel aganglionosis (TCSA) Surgery done at another institution Early deaths Lost to follow-up No documented post-operative outcome

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 18 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: Calretinin staining|A paraffin-embedded hematoxylinphloxin-safran sections will be performed on tissue specimens of proximal resection margins to evaluate the presence or absence of ganglion cells. Immunohistochemistry (IHC) will then be done on paraffin-embedded sections for calretinin staining.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Long-term outcomes (Quality of life questionnaire) | To determine if calretinin has a role in the function of ganglion cells in long segment Hirschsprung disease and total colonic aganglionosis. HAQL (Hirschsprung's disease and Anorectal malformations Quality of Life) questionnaire. For each item the response is scored from 0 to 3 and then, linearly transformed to a 0 (minimum value) to 100 (maximum value) scale. Higher score suggests a better quality of life. | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Surgical complications | Number of reoperations Number of rebiopsies Number of readmissions Number of bowel obstructions Number of bowel perforation Number of anastomotic leaks Number of anastomotic strictures Number of fistula Number of anal stenosis Number of Hirschsprung-associated enterocolitis | 1 year | 
| Functional outcomes | Presence of constipation (yes/no) Presence of diarrhea (yes/no) Presence of incontinence and soiling (yes/no) Presence of abdominal distension (yes/no) Presence of dependance on enemas/medications (yes/no) | 1 year |