先天性巨结肠是遗传背景复杂的先天性肠神经系统发育异常性疾病,也是小儿外科临床工作中的常见疾病,以消化道末端肠神经节缺如为典型病理特点,肠梗阻、肠穿孔、严重的巨结肠相关性小肠结肠炎是疾病的主要并发症,尤其在低龄婴幼儿起病的病例中,仍是围术期死亡的主要原因。近些年来,越来越多的学者在解析其发病机制、遗传特征、治疗手段等方面不断探索创新,但在低龄婴幼儿,尤其是新生儿期寻找创伤小、特异性高、普适性强的早诊方法仍面临巨大挑战,早发现、早干预可以有效改善患儿的生活质量及疾病预后。本文对先天性巨结肠相关的早期诊断方法进行了系统综述,以期在传统经典的诊断方法上,不断创新求索,综合不同方法的利弊,提高临床应用中的诊断效能,为疾病早期诊断方面的研究提供理论基础。

目的 统计分析Ⅲ型食管闭锁与食管气管瘘(esophageal atresia and tracheoesophageal fistula,EA-TEF)术后气管食管瘘复发(recurrent tracheoesophageal fistula,RTEF)的高危因素,并计算高危因素预测RTEF的能力。方法 回顾分析2015年9月—2021年1 月我院EA-TEF患儿的临床资料,并根据术后是否气管食管瘘复发分成复发组(recurrent组,R组)及无复发组(not recurrent组,NR组),比较两组患儿的基本情况、开放手术或胸腔镜手术、手术时间、气管食管瘘结扎方式等术中情况,统计分析RTEF的高危因素,分析其预测RTEF的能力。结果 研究期间共纳入Ⅲ型食管闭锁患儿154例,男98例,女56 例,R组11例,NR组143例,单因素对比分析R组与NR组患儿除吻合口瘘外其余均无统计学差异,其中R组吻合口瘘6人,占该组54.55%;NR组13人,占该组9.10%,P<0.001;Logistic回归模型调整后可见有吻合口瘘相对于无吻合口瘘发生RTEF的风险增加12倍(OR=12.000,95%CI:3.216~44.771)。结论 RTEF与患儿基本情况、术中情况无关,与吻合口瘘显著相关,且有吻合口瘘的患儿出现RTEF风险是无吻合口瘘患儿的12倍。

Objective To statistical analyze the high-risk factors of recurrent tracheoesophageal fistula (RTEF) after the repair of type Ⅲ esophageal atresia and tracheoesophageal fistula (EA-TEF),and evaluate the ability of these high-risk factors predicting RTEF. Methods Retrospectively analyzed the clinical data of children with type Ⅲ EA-TEF in our hospital from September 2015 to January 2021. Patients were divided into two groups (recurrent and non-recurrent group,R and NR group) according to whether there was RTEF. The general situation of those patients, situation during surgery like open or thoracoscopic surgery,operation time,method of tracheoesophageal fistula ligation were compared. Those factors of two groups were analyzed, the high-risk factors of RTEF were summarized, and Logistic regression analysis on the high-risk factors was performed to analyze the ability of predicting RTEF. Results A total of 154 infants with type Ⅲ EA-TEF were included in the study, 98 males, 56 females. There were 11 cases in R group, 143 cases in NR group. Univariate comparative analysis was carried out on R group and NR group, and no statistical differences were found except in anastomotic fistula. There were 6 patients in R group with anastomotic fistula, accounting for 54.55%, and 13 patients in NR group, accounting for 9.10%,P< 0.001. After adjusting the Logistic regression model with the high-risk factors, there was 12-fold increase in the risk of RTEF with anastomotic fistula (OR=12.000, 95%CI: 3.216~44.771) compared with no anastomotic fistula. Conclusion RTEF was not related to patients' general situation or surgery situation, but significantly related to anastomotic fistula. Patients who with anastomotic fistula had a 12-fold increase in the risk of RTEF compared with no anastomotic fistula.