27例不伴瘘管的先天性肛门直肠畸形临床诊治分析

Clinical Characteristics and Treatment of 27 Cases of Congenital Anorectal Malformation with No Fistula

摘要: 目的：探讨先天性肛门直肠畸形(Anorectal Malformation, ARM)伴无瘘患儿的临床特点。方法：回顾性分析我院27例ARM伴无瘘患儿资料，按有无唐氏综合征(Down Syndrome, DS)分为DS组(n = 8)和对照组(n = 19)。结果：DS组男性比例(87.5% vs 94.7%)及高龄产妇比例(62.5% vs 21.1%)显著高于对照组(P均<0.05)。合并畸形中以心脏畸形(96.3%)最常见，其中DS组心脏畸形自愈率(25%)低于对照组(50%)，但无统计学差异。倒立位摄片(75.0%)和造瘘口造影(87.5%)诊断ARM伴无瘘患儿准确性显著优于会阴超声(38.1%)。25例患儿行三期手术者均未出现严重并发症，术后中位排便评分达16分(15~17分)。结论：ARM伴无瘘患儿具有DS高发、心脏畸形不易自愈的特征，倒立位摄片及造瘘口造影可准确ARM伴无瘘患儿，分期手术安全有效，DS患儿亦可获得良好短期排便功能。

Abstract: Objective To investigate the clinical characteristics of children with anorectal malformation (ARM) with no fistula. Methods A retrospective analysis was performed on 27 cases of ARM with no fistula at our hospital, divided into DS group (n = 8) and control group (n = 19) based on the presence or absence of Down Syndrome (DS). Results The male proportion (87.5% vs 94.7%) and the proportion of elderly mothers (62.5% vs 21.1%) were significantly higher in the DS group compared to the control group (P < 0.05 for both). Among the associated anomalies, cardiac defects were the most common (96.3%), with the self-healing rate of cardiac defects in the DS group (25%) lower than that in the control group (50%), although the difference was not statistically significant. The diagnostic accuracy of invertography (75.0%) and colon distal colostography (87.5%) for ARM with no fistula was significantly higher than that of perineal ultrasound (38.1%). All 25 patients undergoing three-stage surgery had no serious complications, and the postoperative median bowel function score was 16 (15~17). Conclusion: Children with ARM with no fistula are characterized by a higher incidence of DS and less self-healing of cardiac defects. Invertography and colon distal colostography are accurate for diagnosing ARM with no fistula, and staged surgery is safe and effective, with DS patients achieving good short-term bowel function.