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

St. Justine's Hospital50 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hirschsprung Disease Ganglion Hirschsprung Disease, Long-Segment Hypoganglionosis

Interventions

Calretinin stainingDIAGNOSTIC_TEST

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.

Eligibility

Sex: ALLMin age: 0 YearsMax age: 18 Months

Medical Language ↔ Plain English

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

Locations (1)

CHU Sainte-Justine

Montreal, Quebec, Canada

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: 1 year

Secondary Outcomes

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

Time frame: 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)

Time frame: 1 year

Data from ClinicalTrials.gov

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