先天性巨结肠同源病：临床诊断与手术指征的确立

Diagnostic criteria and surgical indications of allied diseases of Hirschsprungs disease in children

目的 报道一组前瞻性的先天性巨结肠同源病（HAD）临床研究总结.方法 2007年6月至2009年12月单一手术组连续行65例巨结肠根治术病例,依据临床症状、直肠肛管测压、直肠黏膜胆碱酯酶组化（AchE）组织化学染色以及钡灌肠检查做出术前诊断.先天性巨结肠症（HD）一旦确诊即有手术指征.HAD手术指征：依临床检查初步诊断后实行严格、系统的保守治疗3～6个月,经治疗无效或有效后又复发者.结果 临床初诊病例HD组为38例,HAD组为27例;术后经病理学诊断最后确诊HD组36例,HD组内有4例证实为HAD,术前误诊率为10.5%（4/38）,HAD组最后病理确诊29例,HAD组内2例最后病理诊断为HD,术前误诊率为7.4%（2/27）;HAD组中节细胞减少症（HG）22例（75.9%）,肠神经元发育不良症（IND）7例（24.1%）.HAD组27例（93.1%）存在直肠肛管抑制反射,但反射波形出现变异和延迟;AchE组化染色阳性为12例（41.4%）,2项结果与HD组相比差异有统计学意义（P＜0.01）;HAD病例钡灌肠检查特点：直肠高度扩张,直肠直径达盆腔的90%以上;超过90%的HAD病例有乙状结肠冗长;24 h后复查钡滞留（100%）.29例HAD患儿中9例行次全切除术（31.0%）,HD组36例中次全切除为8例（22.2%）.结论 测压、AChE组化染色和钡灌肠检查仍是诊断HAD的重要方法.初步诊断HAD后,采取3个月到半年的严格保守治疗措施对最后确定手术指征非常重要.由于HD和HAD症状和检查结果在一定程度上相互重叠,致使HAD和HD病例术前可误诊,但这种误诊对手术指征的确定并无影响.

Objective To determine the diagnostic criteria and surgical indications of allied diseases of Hirschsprung＇s disease （HAD） in children. Methods During the period from Jun. 2007 to Dec. 2009,65 consecutive patients were performed ＂radical surgery for megacolone＂ by this surgery team. Based on the clinical symptoms,anorectal manometry, AChE staining of rectal mucosa and barium enema,the preoperative suspected diagnosis of Hirschsprung＇s disease （HD） or HAD was made.Surgical indications were determined once the suspected HD diagnose was made. On the patients withsuspected HAD, strictly conservative treatments should be carried out for at least 3 months. If conservative treatments were ineffective or the symptoms were recurrent, surgical indication of HAD patients could be determined. Results The preoperative diagnosis was 38 patients with HD and 27 with HAD.However, the final pathologic diagnosis was 36 with HD and 29 with HAD. The misjudged preoperative diagnosis was made in 10. 5% （4/38） HD patients and 7. 4% （2/27） HAD patients. The HADplasia （IND） cases. Among the 27 HAD patients,27 （93. 1%） had anorectal inhibitory reflex, and varied and delayed reflection waveforms. AChE staining was positive in 12 （41.1%） patients. The results of anorectal manometry and AChE staining of the HAD patients were significantly different from those of the HD patients （P〈0. 01）. Barium enema of the HAD patients appeared severe expanded rectum which occupied more than 90% space of the pelvic cavity. Redundant sigmoid colon was also found in more than 90% patients. All HAD patients had 24-hour barium retention. Subtotal colectomies were performed on 9 （31.0%） HAD patients, and 8 （22. 2%） HD patients. Conclusions Anorectal manometry, AChE staining and barium enema are still important in determining the diagnosis and surgical in- dications for HAD. The efficacy of 3 months or longer conservative treatment is crucial to determine the surgical indications for HAD.