Khan A R, Vujanic G M, Huddart S
Department of Pediatric Surgery, College of Medicine and King Khalid University Hospital, P.O. 2925, 11461 Riyadh, Saudi Arabia.
Pediatr Surg Int. 2003 Aug;19(6):439-42. doi: 10.1007/s00383-002-0934-9. Epub 2003 Apr 16.
The incidence of Hirschsprung's disease (HD) was determined in children who presented with constipation to a specialist paediatric surgical unit. During a 5-year period, 355 rectal biopsies were performed on 182 neonates, infants and children presenting with chronic constipation or intestinal obstruction: 25 (14%) were diagnosed HD. One hundred and four patients had suction and 78 had full-thickness rectal biopsies. Haematoxylin-eosin (HE) staining and acetylcholinesterase (AChE) histochemistry was used. In 13 cases (8%) of suction and 2 cases (2.5%) of full thickness rectal biopsies, specimens were inadequate to diagnose HD. The mean age of all patients was 2.9 years and that of patients diagnosed with HD was 3.64 months. Nineteen patients with HD were diagnosed in the first month, 5 in 1-12 months and 1 at 4 years of age (Fig. 1). The authors found that along with onset of constipation convincing indications for rectal biopsy to exclude HD were as follows: those infants and children who do not pass meconium within 48 hours, have low intestinal obstruction of unknown cause, severe constipation, chronic abdominal distension and failure to thrive. A diagnostic accuracy of 94% was achieved with AChE histochemistry for suction rectal biopsy. After this review, referring paediatricians were advised that screening of other common organic causes of constipation with the least invasive investigations, including laboratory, dietary and paediatric gastroenterology advice, should be undertaken to avoid unnecessary rectal biopsy to exclude HD and related disorders.
对一家专业儿科外科单位中因便秘就诊的儿童进行了先天性巨结肠症（HD）发病率的测定。在5年期间，对182例出现慢性便秘或肠梗阻的新生儿、婴儿和儿童进行了355次直肠活检：25例（14%）被诊断为HD。104例患者进行了吸引活检，78例进行了全层直肠活检。采用苏木精-伊红（HE）染色和乙酰胆碱酯酶（AChE）组织化学方法。在13例（8%）吸引活检和2例（2.5%）全层直肠活检中，标本不足以诊断HD。所有患者的平均年龄为2.9岁，被诊断为HD的患者平均年龄为3.64个月。19例HD患者在出生后第一个月被诊断，5例在1至12个月被诊断，1例在4岁时被诊断（图1）。作者发现，除便秘外，直肠活检以排除HD的令人信服的指征如下：出生后48小时内未排出胎粪、原因不明的低位肠梗阻、严重便秘、慢性腹胀和发育不良的婴幼儿。AChE组织化学对吸引直肠活检的诊断准确率为94%。经过此次回顾，建议转诊的儿科医生应采用侵入性最小的检查方法筛查便秘的其他常见器质性病因，包括实验室检查、饮食指导和儿科胃肠病学建议，以避免为排除HD及相关疾病而进行不必要的直肠活检。
