Doodnath Reshma, Puri Prem
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Pediatr Surg Int. 2010 Nov;26(11):1107-10. doi: 10.1007/s00383-010-2694-2.
Hirschsprung's disease (HD) is characterised by an absence of ganglion cells in the distal bowel, beginning at the internal sphincter and extending proximally to varying distances. It is usually diagnosed in the newborn period, with usual presentation of delayed passage of meconium and abdominal distension, with or without bilious vomiting. HD in adults is rare and is thus often undiagnosed or misdiagnosed. The purpose of this meta-analysis was to review the presentation, treatment and clinical outcome of HD presenting after childhood.
A systematic review and meta-analysis of all cases of HD presenting after childhood in the English literature was performed from 1950 to 2009. Detailed information regarding demographics, clinical presentation and methods of diagnosis, surgical procedure, complications and the outcome at time of follow up was recorded.
There were 490 cases of HD presenting after childhood in the English literature, 341 (69.5%) males, 129 (26.4%) females and 20 (4.1%) cases where gender was not specified. As much as 390 (79.6%) were confined to the rectum, 60 (12.3%) had recto-sigmoid disease, 4 (0.8%) had disease extending to the descending colon and there were 2 (0.4%) cases that extended to the transverse colon and 2 (0.4%) cases of total colonic disease. The extent of disease was not specified in the remaining 32 (6.5%) cases. A total of 49 (10%) patients had the Swenson procedure, 231 (47.2%) patients had the Duhamel procedure, 40 (8.2%) patients had the Soave procedure, 45 (9.2%) patients had a myectomy only, 3 (0.6%) patients had a myectomy combined with colectomy, 14 (2.9%) patients had a myectomy combined with anterior resection. As much as 26 (5.3%) patients had a lower anterior resection (LAR), 28 (5.7%) patients had LAR combined with colectomy, 10 (2%) patients had a colectomy, 1 (0.2%) patient had an anopexy and 4 (0.9%) patients had a colostomy only. A total of 13 (2.7%) patients refused surgery and managed with conservative treatment, and in 25 (5.1%) patients, the specific procedure was not identified. There were 2 (0.4%) deaths reported; 1 patient died prior to surgery due to colonic perforation and sepsis and the 2nd patient died post-operatively due to appendix stump dehiscence, peritonitis and sepsis. The time of follow up ranged from 1 to 25 years and all, but 6 (1.3%) had a very good clinical outcome.
Hirschsprung's disease should be considered in patients who have had chronic constipation since birth. This review suggests that the vast majority of patients in whom HD is diagnosed after childhood have normal bowel function after pull-through surgery.
先天性巨结肠（HD）的特征是远端肠道缺乏神经节细胞，始于内括约肌并向近端延伸不同距离。它通常在新生儿期被诊断出来，常见表现为胎粪排出延迟和腹胀，伴有或不伴有胆汁性呕吐。成人HD很少见，因此常常未被诊断或误诊。本荟萃分析的目的是回顾儿童期后出现的HD的临床表现、治疗方法和临床结果。
对1950年至2009年英文文献中所有儿童期后出现的HD病例进行系统回顾和荟萃分析。记录了有关人口统计学、临床表现和诊断方法、手术程序、并发症以及随访时结果的详细信息。
英文文献中有490例儿童期后出现的HD病例，其中341例（69.5%）为男性，129例（26.4%）为女性，20例（仅4.1%）未注明性别。多达390例（79.6%）局限于直肠，60例（12.3%）患有直肠乙状结肠疾病，4例（0.8%）疾病延伸至降结肠，2例（0.4%）延伸至横结肠，2例（0.4%）为全结肠疾病。其余32例（6.5%）病例未注明疾病范围。共有49例（10%）患者接受了斯文森手术，231例（47.2%）患者接受了杜哈梅尔手术，40例（8.2%）患者接受了索阿韦手术，45例（9.2%）患者仅接受了肌切除术，3例（0.6%）患者接受了肌切除术联合结肠切除术，14例（2.9%）患者接受了肌切除术联合前切除术。多达26例（5.3%）患者接受了低位前切除术（LAR），28例（5.7%）患者接受了LAR联合结肠切除术，10例（2%）患者接受了结肠切除术，1例（0.2%）患者接受了肛门固定术，4例（0.9%）患者仅接受了结肠造口术。共有13例（2.7%）患者拒绝手术并接受保守治疗，25例（5.1%）患者未明确具体手术方式。报告有2例（0.4%）死亡；1例患者术前因结肠穿孔和败血症死亡，第2例患者术后因阑尾残端裂开、腹膜炎和败血症死亡。随访时间为1至25年，除6例（1.3%）外，所有患者临床结果均良好。
对于自出生以来一直患有慢性便秘的患者，应考虑先天性巨结肠。本综述表明，绝大多数儿童期后被诊断为HD的患者在拖出手术后肠道功能正常。
