Abstract：
OBJECTIVE: Extended total colonic aganglionosis (ETCA) represents uncommon forms of Hirschsprung disease (HD), with aganglionosis extending into the proximal small bowel. ETCA management is challenging and associated with poor outcomes and high mortality. This study compares management and outcomes of ETCA to more common HD forms.
METHODS: A retrospective cohort of HD patients (2012-2023) from two institutions. Three HD forms were compared: short-segment HD (SSHD, n = 19), long-segment HD or total colonic aganglionosis (LS/TCA, n = 9) and ETCA (n = 7).
RESULTS: Normally innervated segments in ETCA patients ranged 0-70 cm. Median times to first surgery were; ETCA = 3 days versus TCA = 21 days (p = 0.017) and SSHD = 95 days (p < 0.001), respectively. Median number of surgeries were; ETCA = 4, versus TCA = 2 (p = 0.17) and SSHD = 1 (p = 0.002), respectively. All the patients underwent a definitive pull-through procedure, except four ETCA patients with a permanent jejunostomy and residual aganglionic segment of 57-130 cm. ETCA patients had 92% lower odds of enterocolitis (14%) compared to TCA patients (67%, p = 0.054), and comparable odds to SSHD patients (16%, p = 0.92). ETCA mortality was 14%.
CONCLUSIONS: Extended total colonic aganglionosis patients require earlier and multiple interventions. Leaving an aganglionic segment may be advantageous, without increasing risk for enterocolitis. Tailored surgical treatment and rehabilitation programmes may prevent mortality and need for transplantation.
METHODS: A retrospective cohort of HD patients (2012-2023) from two institutions. Three HD forms were compared: short-segment HD (SSHD, n = 19), long-segment HD or total colonic aganglionosis (LS/TCA, n = 9) and ETCA (n = 7).
RESULTS: Normally innervated segments in ETCA patients ranged 0-70 cm. Median times to first surgery were; ETCA = 3 days versus TCA = 21 days (p = 0.017) and SSHD = 95 days (p < 0.001), respectively. Median number of surgeries were; ETCA = 4, versus TCA = 2 (p = 0.17) and SSHD = 1 (p = 0.002), respectively. All the patients underwent a definitive pull-through procedure, except four ETCA patients with a permanent jejunostomy and residual aganglionic segment of 57-130 cm. ETCA patients had 92% lower odds of enterocolitis (14%) compared to TCA patients (67%, p = 0.054), and comparable odds to SSHD patients (16%, p = 0.92). ETCA mortality was 14%.
CONCLUSIONS: Extended total colonic aganglionosis patients require earlier and multiple interventions. Leaving an aganglionic segment may be advantageous, without increasing risk for enterocolitis. Tailored surgical treatment and rehabilitation programmes may prevent mortality and need for transplantation.
摘要：
目的：扩展的全结肠神经节病（ETCA）代表罕见的Hirschsprung病（HD），神经节病延伸到近端小肠。ETCA管理具有挑战性，并且与不良结局和高死亡率相关。这项研究将ETCA的管理和结果与更常见的HD形式进行了比较。
方法：来自两个机构的HD患者（2012-2023年）的回顾性队列。比较了三种HD形式：短段HD（SSHD，n=19),长段HD或完全结肠神经节病（LS/TCA，n=9)和ETCA(n=7)。
结果：ETCA患者的神经支配节段通常为0-70cm。首次手术的中位时间为：ETCA=3天，TCA=21天（p=0.017），SSHD=95天（p<0.001），分别。手术的中位数为：ETCA=4，TCA=2（p=0.17）和SSHD=1（p=0.002），分别。所有病人都接受了明确的穿刺手术，除四名永久性空肠造口术和57-130cm残留神经节段的ETCA患者外。与TCA患者（67%，p=0.054),与SSHD患者的几率相当(16%，p=0.92）。ETCA死亡率为14%。
结论：总结肠神经节病患者需要早期和多种干预措施。离开神经节段可能是有利的，不会增加小肠结肠炎的风险。量身定制的手术治疗和康复计划可以预防死亡率和移植需求。
方法：来自两个机构的HD患者（2012-2023年）的回顾性队列。比较了三种HD形式：短段HD（SSHD，n=19),长段HD或完全结肠神经节病（LS/TCA，n=9)和ETCA(n=7)。
结果：ETCA患者的神经支配节段通常为0-70cm。首次手术的中位时间为：ETCA=3天，TCA=21天（p=0.017），SSHD=95天（p<0.001），分别。手术的中位数为：ETCA=4，TCA=2（p=0.17）和SSHD=1（p=0.002），分别。所有病人都接受了明确的穿刺手术，除四名永久性空肠造口术和57-130cm残留神经节段的ETCA患者外。与TCA患者（67%，p=0.054),与SSHD患者的几率相当(16%，p=0.92）。ETCA死亡率为14%。
结论：总结肠神经节病患者需要早期和多种干预措施。离开神经节段可能是有利的，不会增加小肠结肠炎的风险。量身定制的手术治疗和康复计划可以预防死亡率和移植需求。
