Abstract：
BACKGROUND: Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease.
METHODS: All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis.
RESULTS: A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay.
CONCLUSIONS: The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.
METHODS: All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis.
RESULTS: A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay.
CONCLUSIONS: The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.
摘要：
背景：先天性巨结肠病的诊断延迟并不常见。已经提出了不同的定义，但是在12个月大之后获得的诊断似乎是最可靠的，并且可以使用。一些作者报告了在延迟的情况下更糟糕的结果。我们的研究旨在提供一系列接受Hirschsprung疾病延迟诊断的患者的最相关特征。
方法：对2017年1月至2023年7月期间入住本中心并延迟诊断为先天性巨结肠的所有连续患者进行回顾性研究。人口统计数据,表型,基因型，手术并发症,并对结局进行了评估，并与文献进行了比较。还将许多变量与同一研究期间未延迟诊断的一系列患者的变量进行了比较。
结果：共纳入45例患者（在346例患者的诊断年龄数据中占16.4%）。男女比例为3.1:1。诊断时的中位年龄为41个月，差异很大（范围在17个月至58岁之间）。除2例患者外，所有患者均患有经典直肠乙状结肠神经节病。与在没有诊断延迟的系列中观察到的患者相比，报告的胎粪正常通过（58％）明显更高（p=0.0140）。所有其他变量(相关异常、术前小肠结肠炎,并发症,和功能结果）与一系列没有诊断延迟的患者相比，没有统计学上的显着差异。
结论：我们的研究结果强调，很大比例的患者在新生儿期基本上是由于轻微的症状而错过的。总体结果与没有诊断延迟的患者没有差异。尽管如此，我们强调了对所有胎粪延迟/失败患者进行全程调查的重要性,以及在便秘患儿中采用低阈值进行直肠抽吸活检的重要性,以避免误诊,从而为患者提供最佳服务.
方法：对2017年1月至2023年7月期间入住本中心并延迟诊断为先天性巨结肠的所有连续患者进行回顾性研究。人口统计数据,表型,基因型，手术并发症,并对结局进行了评估，并与文献进行了比较。还将许多变量与同一研究期间未延迟诊断的一系列患者的变量进行了比较。
结果：共纳入45例患者（在346例患者的诊断年龄数据中占16.4%）。男女比例为3.1:1。诊断时的中位年龄为41个月，差异很大（范围在17个月至58岁之间）。除2例患者外，所有患者均患有经典直肠乙状结肠神经节病。与在没有诊断延迟的系列中观察到的患者相比，报告的胎粪正常通过（58％）明显更高（p=0.0140）。所有其他变量(相关异常、术前小肠结肠炎,并发症,和功能结果）与一系列没有诊断延迟的患者相比，没有统计学上的显着差异。
结论：我们的研究结果强调，很大比例的患者在新生儿期基本上是由于轻微的症状而错过的。总体结果与没有诊断延迟的患者没有差异。尽管如此，我们强调了对所有胎粪延迟/失败患者进行全程调查的重要性,以及在便秘患儿中采用低阈值进行直肠抽吸活检的重要性,以避免误诊,从而为患者提供最佳服务.
