Introduction Late diagnosis of Hirschsprung's disease (LDHD) may carry a poor prognosis. Its definition remains unclear and its implication on HD-related core outcomes has not been fully reported.

Methods A single-center 20-year series was reviewed to include HD with follow-up of 1 year or more post pull-through (PT) and aged 5 years or older. We investigated six core outcomes derived from NETS^1HD study by comparing the groups dichotomized by four time points using age at diagnosis (44-week gestation, 6 months, 1 year, and 3 years). Following establishment of definition of LDHD, the outcomes and complications were compared with timely diagnosis of HD (TDHD).

Results Forty-nine out of eighty-six HD were included. The definition of LDHD was found to be HD diagnosed at 1 year of age or later because 3/6 core outcomes were significantly worse than TDHD. Nine patients (18%) had LDHD—median age at diagnosis 42 months (12–89) and PT performed at 57 months (12–103), mostly Soave (73%); a covering stoma was performed in 7/9, significantly higher than TDHD in 10/40 (p = 0.001). LDHD was associated with increased unplanned surgery (78% vs. 30%, p = 0.019), fecal incontinence (100% vs. 62%, p = 0.01), and permanent stoma (33% vs. 5%, p = 0.037). Major complications (56% vs. 20%, p = 0.043) and redo PT (33% vs. 5%, p = 0.037) were also higher in LDHD.

Conclusion LDHD could be defined as HD diagnosis at or over 1 year of age. LDHD was associated with more preoperative stoma, major postoperative complications, unplanned reoperation, and worse HD-related core outcomes.

先天性巨结肠 ( LDHD  ) 的晚期诊断可能会导致预后不良。其定义仍不清楚，其对 HD 相关核心结果的影响尚未得到充分报道。

方法 回顾了一项 20 年的单中心系列研究，其中包括 HD 随访 1 年或更长时间（PT）后 5 岁或 5 岁以上。我们通过比较使用诊断年龄（妊娠 44 周、6 个月、1 岁和 3 岁）按四个时间点划分的组，调查了 NETS ^1HD研究得出的六个核心结果。在确定 LDHD 的定义后，将结果和并发症与及时诊断 HD (TDHD) 进行比较。

结果 86 例 HD 中有 49 例被纳入。发现 LDHD 的定义是在 1 岁或更晚时诊断为 HD，因为 3/6 的核心结果明显比 TDHD 差。9 名患者 (18%) 患有 LDHD——诊断时的中位年龄为 42 个月 (12–89)，PT 在 57 个月 (12–103) 时进行，主要是 Soave (73%)；7/9 进行了覆盖造口，显着高于 10/40 的 TDHD ( p  = 0.001)。LDHD 与计划外手术（78% 对 30%，p  = 0.019）、大便失禁（100% 对 62%，p  = 0.01）和永久造口（33% 对 5%，p  = 0.037）增加相关. 主要并发症（56% 对 20%，p  = 0.043）和重做 PT（33% 对 5%，p = 0.037) 在 LDHD 中也更高。

结论 LDHD 可定义为 1 岁或 1 岁以上的 HD 诊断。LDHD 与更多的术前造口、术后主要并发症、计划外再次手术和更差的 HD 相关核心结果相关。