Friedmacher Florian, Puri Prem
National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Pediatr Surg Int. 2013 Sep;29(9):937-46. doi: 10.1007/s00383-013-3361-1.
Down syndrome (DS) is the most frequent chromosomal abnormality associated with Hirschsprung's disease (HD). It has often been suggested that this association results in poorer outcomes with regard to postoperative complications, continence and mortality. On the other hand, the results after surgical treatment of HD in patients with DS are reportedly similar to those in cases with HD alone. The objective of this study was to determine the incidence of DS in cohorts with HD, and to compare pre-/postoperative complications, functional outcome and mortality between cohorts with and without coexisting DS.
A systematic literature-based search for relevant cohorts was conducted using multiple online databases. The number of DS cases in HD cohorts was recorded and data on pre-/postoperative complications, functional outcome and mortality were extracted. Pooled odds ratios with 95% confidence intervals were calculated using meta-analysis methodology.
Sixty-one articles met defined inclusion criteria, comprising data from 16,497 patients with HD. The overall incidence of DS among them was 7.32%. Vice versa, the incidence of HD in 29,418 patients with DS was 2.62%. There were no significant differences regarding the male-to-female ratio between cohorts with and without coexisting DS (4:1 vs. 3:1 respectively; P = 0.5376). The rate of additional comorbidities was significantly higher in HD associated with DS (P < 0.0001). Recto-sigmoid HD was in both cohorts the most common type of HD (P = 0.8231). Long-segment HD was significantly more frequent in HD with coexisting DS (P = 0.0267), while total colonic aganglionosis occurred significantly more often in HD without DS (P = 0.0003). There were no significant differences in preoperative constipation/obstruction (P = 0.5967), but the rate of preoperative enterocolitis was significantly higher in HD associated with DS (P = 0.0486). Postoperative complications such as recurrent enterocolitis (P = 0.0112) and soiling (P = 0.0002) were significantly more frequent in HD with coexisting DS. Although not statistically significant, fecal incontinence (P = 0.1014) and persistent constipation (P = 0.1670) occurred more often after surgical treatment of HD with DS. The mortality rate was significantly higher in HD associated with DS (P < 0.0001).
The association of HD with DS is well-recognized with an incidence of 7.32%. A large number of patients with DS continue to have persistent bowel dysfunction after surgical treatment of HD. Our data provide strong evidence that the coexistence of HD and DS is associated with higher rates of pre-/postoperative enterocolitis, poorer functional outcomes and increased mortality.
唐氏综合征（DS）是与先天性巨结肠症（HD）相关的最常见染色体异常疾病。人们常认为这种关联会导致术后并发症、控便能力及死亡率方面的预后较差。另一方面，据报道，DS患者HD手术治疗后的结果与单纯HD病例相似。本研究的目的是确定HD队列中DS的发病率，并比较合并DS和未合并DS的队列术前/术后并发症、功能结局及死亡率。
使用多个在线数据库对相关队列进行基于文献的系统检索。记录HD队列中DS病例的数量，并提取术前/术后并发症、功能结局及死亡率的数据。采用荟萃分析方法计算合并优势比及95%置信区间。
61篇文章符合既定纳入标准，包含16497例HD患者的数据。其中DS的总体发病率为7.32%。反之，29418例DS患者中HD的发病率为2.62%。合并DS和未合并DS的队列之间男女比例无显著差异（分别为4:1和3:1；P = 0.5376）。与DS相关的HD中额外合并症的发生率显著更高（P < 0.0001）。直肠乙状结肠型HD在两个队列中都是最常见的HD类型（P = 0.8231）。合并DS的HD中长段型HD明显更常见（P = 0.0267），而全结肠无神经节细胞症在未合并DS的HD中明显更常见（P = 0.0003）。术前便秘/梗阻情况无显著差异（P = 0.5967），但与DS相关的HD中术前小肠结肠炎的发生率显著更高（P = 0.0486）。合并DS的HD中术后并发症如复发性小肠结肠炎（P = 0.0112）和便污（P = 0.0002）明显更常见。虽然无统计学意义，但DS患者HD手术治疗后大便失禁（P = 0.1014）和持续性便秘（P = 0.1670）的发生率更高。与DS相关的HD死亡率显著更高（P < 0.0001）。
HD与DS的关联已得到充分认识，发病率为7.32%。大量DS患者在HD手术治疗后仍存在持续性肠道功能障碍。我们的数据提供了有力证据，表明HD和DS共存与术前/术后小肠结肠炎发生率更高、功能结局更差及死亡率增加相关。
