Budzanowski Annita, Geoghegan Niamh, Macdonald Alexander, Choudhry Muhammad
Department of Paediatric Surgery, Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK.
Children (Basel). 2024 Aug 12;11(8):970. doi: 10.3390/children11080970.
The presenting symptoms of patients with Hirschsprung's disease (HD) are a failure to pass meconium, abdominal distension, and bilious vomiting. The gold standard diagnosis is a rectal biopsy to confirm aganglionosis. The aim of our study was to describe the diagnostic pathway of Hirschsprung's disease at our institution and document the indication for a rectal biopsy.
We have performed a prospective collection of all patients who underwent a rectal biopsy to exclude HD from December 2022 until September 2023 including. The following data were collected: patient's age, presenting symptoms, type of biopsy, failure rate, complications, and histopathological results.
We identified 33 patients who underwent 34 rectal biopsies at 0.6 years of age. A total of 17 patients had a rectal suction biopsy (RSB), and 17 patients underwent a partial thickness under general anaesthesia (GA). 1/17 (6%) patients had an inconclusive RSB and subsequently underwent a biopsy under GA. Constipation and chronic abdominal distension plus vomiting were the most common presenting symptoms throughout all ages. Five patients (15%) had a rectal biopsy that was positive for HD.
A protocolised approach to the assessment of infants and children with suspected HD ensures the appropriate utilisation of invasive procedures such as biopsy.
先天性巨结肠症（HD）患者的典型症状为胎粪排出延迟、腹胀和胆汁性呕吐。金标准诊断方法是直肠活检以确诊无神经节细胞症。我们研究的目的是描述我院先天性巨结肠症的诊断流程，并记录直肠活检的指征。
我们对2022年12月至2023年9月期间所有接受直肠活检以排除HD的患者进行了前瞻性收集。收集了以下数据：患者年龄、临床表现、活检类型、失败率、并发症和组织病理学结果。
我们确定了33例患者，在0.6岁时进行了34次直肠活检。共有17例患者进行了直肠吸引活检（RSB），17例患者在全身麻醉（GA）下进行了部分厚度活检。1/17（6%）的患者RSB结果不明确，随后在GA下进行了活检。便秘以及慢性腹胀伴呕吐是各年龄段最常见的临床表现。5例患者（15%）的直肠活检结果显示HD阳性。
对疑似HD的婴幼儿进行评估的规范化方法可确保合理使用活检等侵入性检查。
