Hirschsprung's disease in the UK and Ireland: incidence and anomalies

Abstract

ObjectivesTo describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD).DesignPopulation-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012.SettingAll 28 paediatric surgical centres in the UK and Ireland.Participants305 infants presenting before 6 months of age with histologically proven HD.Main outcome measuresIncidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma.ResultsThe 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.ConclusionsIn 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.

Profile of Hirschsprung’s disease cases diagnosed in tertiary care teaching hospital: a retrospective observational study

“…In the study the incidence of HD is noted to be more in neonates, this finding is similar to that found in research by Duess et al, and another study by Bradnock T et al, in their study on HD incidence and anomalies in Ireland concluded that incidence of HD beyond neonatal stage is rare. 11,12 The cases studied included more male patients which is also similar to that found in many studies on HD like a study by Granéli C et al, on Diagnosis, Symptoms, and Outcomes of Hirschsprung's Disease from the Perspective of Gender which showed the prevalence of HD to be in the ratio of 1:4 between females and males. 13 All the cases included in the study were diagnosed by biopsy of different parts of the intestine.…”

Outcomes at five to eight years of age for children with Hirschsprung’s disease

“…One way to improve the experience of parents of children who undergo surgery for HD is to increase the amount of reliable, easily understandable information that hospitals are able to give them regarding their child's diagnosis and likely long term health. 1 At present however, with the exception of data from a few groups, [2][3][4][5] there is little information available on which to base counselling of parents. It is therefore very difficult for surgeons to reference reliable information to help parents understand their child's diagnosis and probable treatment.…”

Controlled outcome of Hirschsprung’s disease beyond adolescence: a single center experience

“…In rare cases the aganglionosis can affect the whole gastrostintestinal tract. The condition affects approximately 1/4500–5500 live births and is approximately three times more common in males [ 1 , 2 ]. Over the years, the original surgical approaches designed by Swenson, Duhamel and Soave have been modified and today many centers use laparoscopic or totally transanal pull-through-procedures [ 3 – 8 ].…”