192例0～3个月先天性肠无神经节细胞症婴儿临床分析

摘要

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 Hirschsprung′s 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 Hirschsprung′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 based on the typical medical history , physical examination ,and special auxiliary examinations .The special auxiliary examinations included barium enema ,anorectal mano‐metry 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 complications and midterm satisfactory results .