Department of Paediatric Surgery, Chelsea and Westminster Hospital, Chelsea, London, United Kingdom.
Department of Paediatric Surgery, Imperial College London, London, United Kingdom.
Eur J Pediatr Surg. 2022 Dec;32(6):512-520. doi: 10.1055/s-0042-1744147. Epub 2022 Mar 9.
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.
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 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).
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 ( = 0.001). LDHD was associated with increased unplanned surgery (78% vs. 30%, = 0.019), fecal incontinence (100% vs. 62%, = 0.01), and permanent stoma (33% vs. 5%, = 0.037). Major complications (56% vs. 20%, = 0.043) and redo PT (33% vs. 5%, = 0.037) were also higher in LDHD.
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.
先天性巨结肠症（HD）的延迟诊断（LDHD）可能预后不良。其定义仍不明确，对 HD 相关核心结局的影响也尚未完全报道。
本研究回顾了单中心 20 年的系列病例，纳入了接受经肛门拖出术（PT）后随访时间超过 1 年且年龄在 5 岁及以上的 HD 患儿。我们通过比较四个时间点（44 周妊娠、6 个月、1 年和 3 年）的年龄将患儿分为两组，对源自 NETS 研究的六个核心结局进行了调查。在确定 LDHD 的定义后，将其结局和并发症与 HD 的及时诊断（TDHD）进行了比较。
共纳入 86 例 HD 患儿中的 49 例。我们发现，HD 诊断年龄在 1 岁或以上即为 LDHD，因为 6 个核心结局中有 3 个显著差于 TDHD。9 例（18%）患儿为 LDHD，中位诊断年龄为 42 个月（12-89 个月），PT 年龄为 57 个月（12-103 个月），主要术式为 Soave 术（73%）；9 例患儿中 7 例行保护性回肠造口术，显著高于 TDHD 组的 10 例（=0.001）。LDHD 患儿与更高的非计划手术（78% vs. 30%，=0.019）、大便失禁（100% vs. 62%，=0.01）和永久性造口（33% vs. 5%，=0.037）相关。LDHD 患儿的主要并发症（56% vs. 20%，=0.043）和再次 PT（33% vs. 5%，=0.037）也更高。
可以将 HD 诊断年龄在 1 岁或以上定义为 LDHD。LDHD 与术前造口更多、术后主要并发症、非计划再手术和更差的 HD 相关核心结局有关。
