Nakamura Hiroki, Puri Prem
National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland.
School of Medicine and Medical Science and Conway Institute of Biomolecular and Biomedical Research University College Dublin, Dublin, Ireland.
Pediatr Surg Int. 2020 Jan;36(1):21-24. doi: 10.1007/s00383-019-04580-4. Epub 2019 Sep 24.
BACKGROUND/PURPOSE: Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association.
A systematic literature search for relevant articles was performed in four databases using a combination of the following terms "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" and "congenital megacolon and anorectal malformation" for studies published between 1952 and 2019. Reference lists were screened for additional cases.
Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister-Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case.
Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
背景/目的：先天性巨结肠（HSCR）和肛门直肠畸形（ARM）常与其他先天性畸形相关，但二者之间的关联较为罕见。一些研究报道HSCR合并ARM的发生率在2.0%至3.4%之间。本研究旨在更新这种罕见先天性关联的当前流行病学和治疗特征。
在四个数据库中进行系统的文献检索，使用“先天性巨结肠与肛门直肠畸形的关联”、“无神经节症与肛门直肠畸形”和“先天性巨结肠与肛门直肠畸形”等组合词，检索1952年至2019年发表的研究。对参考文献列表进行筛选以获取更多病例。
43项研究符合既定的纳入标准，共报告了126例被诊断为HSCR合并ARM的患者。30篇文章报告了42例这种关联的单病例报告。12篇文章在3309例ARM患者的病例系列中报告了66例HSCR病例，该关联的发生率为2%。在25例（20%）中发现了相关综合征：11例为库拉里诺综合征，8例为唐氏综合征，4例为猫眼综合征，2例为帕利斯特-霍尔综合征。62例报告了无神经节症的范围：44例报告为短段或直肠乙状结肠无神经节症，8例为长段无神经节症，9例为全结肠无神经节症，1例为全肠无神经节症。
尽管ARM与HSCR的关联罕见，但ARM病例中HSCR的发生率似乎高于一般儿科人群。ARM与HSCR合并严重相关综合征的发生率较高。
