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Incidence of Hirschsprung Disease at the Central Pediatrics Teaching Hospital in Iraq: A Pathological Overview
Ikram Fakhri Abed Al-Zughaibi1,2, Nada K Mehdi3,4, Hany Akeel Al-Hussaniy2
1Pathologist/Arab Board of Health Specializations in Anatomic Pathology (ABHS-APath), Al Zahraa Teaching Hospital, Kut, Iraq.
Insights
Hirschsprung disease (HD) predominantly affects males, with most cases diagnosed in the first year of life. Early diagnosis and management are crucial for this congenital disorder affecting the colon and rectum.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Hirschsprung disease (HD) is a congenital gastrointestinal motility disorder.
- It is linked to mutations in the RET proto-oncogene.
- Understanding HD's incidence and characteristics in diverse populations is vital.
Purpose of the Study:
- To determine the incidence of Hirschsprung disease in an Iraqi pediatric cohort.
- To analyze the clinical and pathological features of HD in this population.
- To identify associations between disease characteristics and outcomes.
Main Methods:
- Retrospective analysis of 106 pediatric cases over ten years.
- Review of clinical records, surgical histories, and pathological findings.
- Re-evaluation of pathological sections and confirmation of clinical data.
Main Results:
- 106 cases of Hirschsprung disease identified; mean age at diagnosis 2.4 years.
- Male predominance (2.6:1 ratio); 40.6% diagnosed within the first year.
- Colon (35.8%) and rectum (23.6%) most affected; aganglionosis in 57.5%.
Conclusions:
- Hirschsprung disease shows male predominance and early-onset characteristics in Iraqi children.
- Colon and rectum are primary sites; significant associations exist with anatomical site and surgical intervention.
- Emphasizes the need for early diagnosis and tailored management strategies for pediatric HD.
Background:
Hirschsprung disease (HD) is a congenital disorder associated with specific missense mutations in the RET proto-oncogene. This study aimed to demonstrate the incidence of Hirschsprung disease and its clinical and pathological aspects in an Iraqi pediatric cohort from a major referral hospital in Baghdad.
Methods:
A retrospective analysis was conducted over a ten-year period, reviewing the clinical and surgical records of patients diagnosed with Hirschsprung disease. Pathological sections were re-evaluated, and patient medical histories, prior surgeries, and other relevant clinical data were confirmed.
Results:
A total of 106 cases of Hirschsprung disease were identified. The mean age at diagnosis was 2.4 ± 3.0 years, with 40.6% of cases diagnosed within the first year of life. The male-to-female ratio was 2.6:1. The most commonly affected anatomical sites were the colon (35.8%) and rectum (23.6%). Pathological evaluation revealed the absence of ganglion cells in 57.5% of cases. Rectal biopsy was the most frequently performed diagnostic procedure (64.2%), and colon resection was required in 35.8% of cases. A significant association was found between disease presence and anatomical site involvement (P = 0.010) and surgical intervention (P = 0.046).
Conclusion:
The study highlights a male predominance in Hirschsprung disease, with the majority of cases diagnosed within the first year of life. The rectum and colon were the most commonly affected sites. Significant associations were observed between disease presence and anatomical site involvement, as well as surgical interventions, emphasizing the importance of early diagnosis and appropriate management strategies.
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