Department of Pediatric Surgery, Reproductive and Developmental Medicine, Kyushu University, Fukuoka 812-8582, Japan.
J Pediatr Surg. 2009 Dec;44(12):2347-51. doi: 10.1016/j.jpedsurg.2009.07.055.
To identify the clinical features in diagnosis and treatment of Hirschsprung's disease (HD) associated with Down syndrome (DS), the authors retrospectively analyzed data for patients with DS from the past 3 nationwide surveys in Japan. This survey was already approved by the Japanese Society of Pediatric Surgeons.
Patient data were collected in 3 phases-phase I (1978-1982), n = 47; phase II (1988-1992), n = 79; and phase III (1998-2002), n = 90. In total, data on 216 patients (5.6%) of 3852 were collected and analyzed.
The incidence of DS in patients with HD was 2.9%, 7.1%, and 8.2% in phases I, II, and III, respectively, with a corresponding male/female ratio of 5:1, 2.4:1, and 5:1. The ratio of the extent of aganglionosis was nearly consistent across all phases. In phases I, II, and III, the incidence of total colonic aganglionosis was 2.1%, 0%, and 2.2%; and that of cardiovascular anomalies, 36.1%, 45.6%, and 55.6%; and that of preoperative enterocolitis, 31.0%, 26.6%, and 24.4%. The 2 most common surgical procedures were the Soave procedure, including transanal endorectal pull-through, and Duhamel procedure including Z-shaped anastomosis. The mortality rate decreased over time, from 26.1% in phase I to 11.4% in phase II and 7.8% in phase III. Almost all mortality cases were associated with cardiovascular anomalies: 54.5%, 62.5%, and 85.7% in phases I, II, and III, respectively.
The incidence of HD with DS has increased over time. The number of male patients and cardiac anomalies has also increased in the last 10 years. Total colonic aganglionosis was rare. A marked decrease in the overall mortality rate was observed.
为了明确合并唐氏综合征（Down syndrome，DS）的先天性巨结肠（Hirschsprung's disease，HD）的临床特点，作者回顾性分析了日本过去 3 次全国性调查中 DS 患者的数据。该调查已经获得日本小儿外科学会的批准。
分 3 个阶段收集患者资料：第 1 阶段（1978-1982 年），n = 47；第 2 阶段（1988-1992 年），n = 79；第 3 阶段（1998-2002 年），n = 90。共收集 3852 例患者中的 216 例（5.6%）的数据并进行分析。
HD 合并 DS 的发病率分别为第 1、2、3 阶段的 2.9%、7.1%和 8.2%，相应的男/女比例为 5:1、2.4:1 和 5:1。各阶段无神经节细胞的范围比例基本一致。第 1、2、3 阶段全结肠无神经节细胞的发病率分别为 2.1%、0%和 2.2%；心血管畸形的发病率分别为 36.1%、45.6%和 55.6%；术前结肠炎的发病率分别为 31.0%、26.6%和 24.4%。最常见的手术方式为经肛门直肠内拖出术（Soave 术），包括经肛门直肠内拖出术和 Z 形吻合术（Duhamel 术）。死亡率随时间推移逐渐下降，从第 1 阶段的 26.1%降至第 2 阶段的 11.4%和第 3 阶段的 7.8%。几乎所有的死亡病例均与心血管畸形有关：第 1、2、3 阶段的死亡率分别为 54.5%、62.5%和 85.7%。
HD 合并 DS 的发病率随时间推移而增加。过去 10 年中，男性患者和心脏畸形的数量也有所增加。全结肠无神经节细胞的情况罕见。总的死亡率明显下降。
