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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Hirschsprung's disease in the UK and Ireland: incidence and anomalies
T J Bradnock1, M Knight2, S Kenny3
1Department of Paediatric Surgery, The Royal Hospital for Children, Glasgow, UK.
Insights
Hirschsprung's disease (HD) affects 1.8 in 10,000 infants in the UK and Ireland. Most infants present neonatally, but nearly half miss the 48-hour meconium passage, and over a third require a stoma.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Clinical Epidemiology
Background:
- Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Early diagnosis and appropriate management are crucial for improving outcomes in infants with HD.
Purpose of the Study:
- To describe the clinical characteristics of a national cohort of infants with Hirschsprung's disease.
- To analyze the preoperative management strategies employed for infants diagnosed with HD.
- To determine the incidence and presentation patterns of HD in the UK and Ireland.
Main Methods:
- A population-based cohort study was conducted.
- Data were collected from all 28 pediatric surgical centers in the UK and Ireland.
- Included were 305 infants with histologically proven HD presenting before six months of age between October 2010 and September 2012.
Main Results:
- The incidence of HD was 1.8 per 10,000 live births, with a male to female ratio of 3.3:1.
- Associated anomalies were present in 23% of infants, and 15% had a recognizable syndrome.
- 91.5% presented and 83.9% were diagnosed neonatally; 44.2% passed meconium after 48 hours.
- 81% initially presented at non-tertiary centers, requiring transfer.
- Rectal washouts were the initial decompression method for 86.2%, but 27.4% failed this approach and required a stoma, leading to 36.4% of all infants having a stoma.
Conclusions:
- Presentation outside the neonatal period for Hirschsprung's disease is uncommon.
- A significant proportion of infants with HD may not pass meconium within 48 hours.
- Over one-third of infants with HD ultimately required surgical management with a stoma.
Objectives:
To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD).
Design:
Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012.
Setting:
All 28 paediatric surgical centres in the UK and Ireland.
Participants:
305 infants presenting before 6 months of age with histologically proven HD.
Main Outcome Measures:
Incidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma.
Results:
The incidence of HD in the UK and Ireland was 1.8 per 10 000 live births (95% CI 1.5 to 1.9). Male to female ratio was 3.3:1. An associated anomaly was identified in 23% (69), with 15% (47) having a recognisable syndrome. The proportion of infants who presented and were diagnosed in the neonatal period was 91.5% (279) and 83.9% (256), respectively. 23.9% (73) and 44.2% (135) passed meconium within 24 and 48 hours of birth. 81% (246) first presented to a hospital without tertiary paediatric surgical services, necessitating interhospital transfer. Initial colonic decompression was by rectal washouts in 86.2% (263) and by defunctioning stoma in 12.8% (39). Subsequently, 27.4% (72) of infants failed management with rectal washouts and required a delayed stoma, resulting in 36.4% (111) of infants having a stoma.
Conclusions:
In this population-based cohort, presentation outside the neonatal period was rare. Nearly half of the infants with HD passed meconium within 48 hours of birth and over one third were managed with a stoma.
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