Department of Paediatric Surgery and Urology, Starship Children's Health, Auckland, New Zealand.
Department of Surgery, University of Auckland, Auckland, New Zealand.
ANZ J Surg. 2020 Jun;90(6):1037-1040. doi: 10.1111/ans.15923. Epub 2020 Jun 2.
The aim of this study was to report the contemporary management of Hirschsprung disease (HD) in New Zealand.
We undertook a national multi-centre retrospective review of all newly diagnosed cases of HD during a 16-year period (2000-2015). Demographics, genetic and syndromic associations, family history, radiology and histology results and surgical interventions were analysed.
A total of 246 cases (males:females 4:1) were identified, an incidence of 1:3870 live births. Short-segment disease was present in 81.7%, long-segment disease in 8.5%, total colonic aganglionosis in 6.5% and unknown in 3.3%. HD was diagnosed by 4 weeks' corrected gestational age in 67%. Thirty cases (12%) also had Trisomy 21. Fifty-three (21.5%) patients required a repeat rectal biopsy for definitive diagnosis. A contrast enema was performed in 55% and identified the transition zone with 69% accuracy. Primary pull-through surgery was undertaken in 59% (65% of short-segment cases) at a median age of 27 days; others were initially managed by a defunctioning stoma. The commonest definitive procedure was a Soave-Boley endorectal pull-through (79%) (or similar variant). During a median follow-up of 7.4 years, six (2.5%) survivors underwent a redo pull-through, 13 (5.5%) an appendicostomy, 16 (6.8%) a defunctioning stoma and 10 never had a definitive procedure. Total colonic aganglionosis was significantly more likely to be fatal (12.5% versus 0.5%, P < 0.0005) or associated with a permanent end stoma (27.5% versus 4.5%, P < 0.0005).
Most New Zealand born infants with short-segment HD are currently managed by primary pull-through, usually in the first months of life.
本研究旨在报告新西兰先天性巨结肠症（HD）的当代治疗方法。
我们对 16 年来（2000-2015 年）所有新诊断的 HD 病例进行了全国多中心回顾性研究。分析了人口统计学、遗传和综合征关联、家族史、放射学和组织学结果以及手术干预情况。
共确定 246 例（男：女 4:1），发病率为 1:3870 活产儿。短段型占 81.7%，长段型占 8.5%，全结肠无神经节细胞占 6.5%，未知型占 3.3%。67%的患儿在 4 周的校正胎龄时诊断出 HD。30 例（12%）还伴有 21 三体。53 例（21.5%）患者需要直肠重复活检以明确诊断。55%的患者进行了对比灌肠检查，69%的患者可准确识别移行带。59%（65%的短段型病例）的患儿在中位年龄 27 天接受了初次经肛拖出术；其余患儿最初通过结肠造口术进行治疗。最常见的确定性手术是经肛门 Soave-Boley 拖出术（79%）（或类似的变体）。在中位随访 7.4 年期间，6 例（2.5%）存活者接受了再次拖出术，13 例（5.5%）接受了阑尾造口术，16 例（6.8%）接受了结肠造口术，10 例从未进行过确定性手术。全结肠无神经节细胞症的死亡率（12.5%比 0.5%，P<0.0005）或永久性末端造口术（27.5%比 4.5%，P<0.0005）的发生率明显更高。
目前，大多数新西兰出生的短段 HD 患儿通过初次经肛拖出术进行治疗，通常在生命的头几个月进行。
