唐氏综合征合并先天性巨结肠：一个改善的机会。

Hirschsprung disease in Down syndrome: An opportunity for improvement.

机构信息

DeWitt Daughtry Family Department of Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.

出版信息

J Pediatr Surg. 2022 Jun;57(6):1040-1044. doi: 10.1016/j.jpedsurg.2022.01.065. Epub 2022 Feb 13.

DOI:10.1016/j.jpedsurg.2022.01.065

PMID:35279286

Abstract

BACKGROUND

Down syndrome (DS) is the most common abnormality associated with Hirschsprung disease (HD). It has been suggested patients with HD and DS have worse outcomes, however the literature is controversial.

METHODS

The Kids' Inpatient Database (KID) from 2003 to 2012 was used to identify newborns with HD. Demographics, hospital characteristics, and outcomes were compared among patients with and without DS using standard statistical tests.

RESULTS

There were 481 patients identified with HD, of which 45 (9%) had DS. Patients with DS were older at the time of first rectal biopsy (6 [3-11] days vs. 4 [3-6] days, p = 0.012). There were no differences in operative versus non-operative management in patients with and without DS (p = 0.706). Hospital length of stay was longer in the DS cohort (22 [13-33] days vs. 15 [10-24] days, p = 0.019), and patients with DS were more likely to have a concomitant diagnosis of wound infection (<12% vs. 3%, p = 0.002) and necrotizing enterocolitis (<14% vs. 5%, p = 0.018). The mortality rate for patients with DS was four times higher than those without DS (< 5% vs. < 0.8%, p = 0.018).

CONCLUSION

In this nationwide cohort of patients with Hirschsprung disease, those with Down syndrome experienced delays in diagnosis and worse outcomes.

LEVEL OF EVIDENCE

Level III.

TYPE OF STUDY

Treatment study, retrospective comparative study.

摘要

背景

唐氏综合征（DS）是与先天性巨结肠（HD）最相关的常见异常。有研究表明，患有 HD 和 DS 的患者的预后更差，但文献报道存在争议。

方法

利用 2003 年至 2012 年的儿童住院患者数据库（KID），识别出患有 HD 的新生儿。采用标准统计检验，比较有和无 DS 患者的人口统计学、医院特征和结局。

结果

共鉴定出 481 例 HD 患者，其中 45 例（9%）有 DS。DS 患者首次直肠活检时年龄更大（6[3-11]天 vs. 4[3-6]天，p=0.012）。DS 患者和无 DS 患者的手术与非手术治疗之间无差异（p=0.706）。DS 组的住院时间更长（22[13-33]天 vs. 15[10-24]天，p=0.019），且 DS 患者更易并发伤口感染（<12% vs. 3%，p=0.002）和坏死性小肠结肠炎（<14% vs. 5%，p=0.018）。DS 患者的死亡率是无 DS 患者的四倍（<5% vs. <0.8%，p=0.018）。