192例0～3个月先天性肠无神经节细胞症婴儿临床分析

Clinical analysis on Hirschsprung′s disease in infants within 3 months:a 192 cases report

目的探讨钙视网膜蛋白在3个月内婴儿先天性肠无神经节细胞症（HD）的临床诊断价值;对采用经肛门直肠结肠斜形切除吻合术治疗3个月内婴儿HD进行随访及疗效评价。方法 2008年1月至2014年10月该院确诊并行了经肛门直肠结肠切除斜形吻合术或肠造瘘术治疗3个月内婴儿HD 192例,收集其病案资料,并行根治术中期随访,评价其肛直肠功能及生活质量。结果 192例HD患儿中,139例行经肛门直肠结肠切除斜形吻合术,53例行肠造瘘术。术前诊断依据典型病史、体格检查及辅助检查,包括钡剂灌肠、直肠肛管测压和直肠吸引活检钙视网膜蛋白免疫组织化学染色,阳性率分别为80.1%、92.1%、97.9%。66例（60.5%）获中期随访,小肠结肠炎2例（3.0%）,污粪2例（3.0%）,无便秘复发、大小便失禁、肛门狭窄,男性患儿均有阴茎勃起现象,生长发育与正常婴幼儿相当。门诊随访25例,生化检查均在正常范围,15例钡剂灌肠检查显示肠道形态恢复良好;直肠肛管测压11例,10例（90.9%）肛门松弛反射恢复正常,1例未见松弛反射。结论钙视网膜蛋白免疫组织化学染色检查可作为3月内婴儿HD术前诊断的金标准;经肛门直肠结肠斜形切除吻合术设计符合生理,并发症少,中期疗效满意,适合0~3个月小婴儿根治术。

Objective To research the calretinin for the clinical diagnosis of Hirschsprung＇s disease within 3 months infant and follow up the patients which underwent trans-anal rectum colon resection and oblique anastomosis within 3 months and evaluate the therapeutic efficiency. Methods We collected all the medical data of the 192 patients within 3 months which were diagnosed with HirschsprungPs disease in our hospital from January of 2008 to October of 2014. We followed up the intermediate patients who underwent trans-anal rectum colon resection and oblique anastomosis to evaluate the anal rectum function and quality of life. Results There were 192 patients with H irschsprung＇s disease,in which 139 patients underwent trans-anal rectum colon resection and ob- lique anastomosis,53 patients underwent colonstomy surgery. The preoperative diagnosis was baseci on the typical medical history, physical examination,and special auxiliary examinations. The special auxiliary examinations included barium enema,anorectal mano- merry and rectal suction biopsy,the positive rate were 80. 1%, 92. 1% and 97.9 % respectively. Sixty-six （60.5 %） medium-term patients were followed up successfully,no stubborn constipation and incontinence occurred,2 cases（3 %） had postoperative entero- colitis,2 cases（3 %） had defile feces. All male children had penile erectile phenomenon,the growth and development level were ap- propriate compared with normal infants and young children. Twenty-five cases underwent stool routine, blood routine, liver and kid- ney function tests,which were in normal range; Barium enema showed 15 cases with intestinal morphological recovered well. Eleven patients underwent anorectal manometry, 10（90.9 %）of them had RAIR recovered, one case had no RAIR. Conclusion Calretinin immunohistochemical staining could be used as a golden standard to diagnose Hirschsprung＇s disease within 3 months before opera- tion. Trans-anal rectum colon resection and oblique anastomosis is appropriate to the patients within 3 month, the design of which conforms to the physiological,has low rate of postoperative complicatior;s and midterm satisfactory results.