Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease

IF 2.4 2区医学 Q1 PEDIATRICS

Journal of pediatric surgery Pub Date : 2024-11-13 DOI:10.1016/j.jpedsurg.2024.162066

H. Labib , I.J. Shirinskiy , J.J.T.H. Roelofs , J.P. van der Voorn , J. van Schuppen , J. Oosterlaan , L.W.E. van Heurn , M.A. Benninga , J.P.M. Derikx

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引用次数: 0

Abstract

Introduction

It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

Methods

Children suspected of HD above the age of six months referred for biopsies were analyzed retrospectively. Severity of complications of rectal suction biopsy (RSB) and full thickness biopsy (FTB) were assessed using Clavien-Madadi (CM) grading. Factors associated with HD were tested using multivariate logistic regression analysis.

Results

From 2000 to 2022, 234 children older than six months of age underwent biopsies because of defecation problems (median age of 47.2 months (IQR = 17.2–87.2)). Of these, 130 out of 234 children underwent RSB and 112 out of 234 children underwent FTB. One patient (0.4 %) developed a complication following RSB (CM1-A): fever without evident cause. Two patients (0.9 %) had ongoing rectal bleeding following FTB. One patient did not require an intervention (CM1-A), the other received rectal spongostan to stop the bleeding and erythrocyte transfusion (CM2). The most frequent final diagnoses were functional constipation (n = 179, 76.5 %), HD (n = 25, 10.6 %) and food intolerance (n = 5, 2.1 %). Associated factors for HD were distended abdomen (OR 5.41, CI 2.05–14.31), vomiting (OR 4.14, CI 1.64–11.85) and no abdominal pain (OR 0.14, CI 0.03–0.65) (model R² = 0.278).

Conclusion

In children older than six months suspected of HD, presenting with distended abdomen, vomiting and no abdominal pain, we advise obtaining a rectal biopsy in case other causes of constipation are ruled out, because a rectal biopsy is a safe procedure with only minor complications. The most common diagnosis in patients older than six months of age referred for rectal biopsy was functional constipation.

Level of Evidence

Level III.

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6个月以上儿童巨结肠疾病的诊断：直肠活检后的并发症，最终诊断和巨结肠疾病相关因素的见解

根据年龄大于6个月的患者的临床表现来区分巨结肠病（HD）患者和其他原因的排便问题患者是具有挑战性的。直肠活检病理检查是诊断HD的金标准。本研究的目的是深入了解1)直肠活检后并发症的患病率和严重程度，2)转介活检患者的最终诊断，以及3)年龄大于6个月的HD患者的相关临床因素。方法对6个月以上疑为HD的患儿进行回顾性分析。采用Clavien-Madadi （CM）分级法评估直肠抽吸活检（RSB）和全层活检（FTB）并发症的严重程度。采用多因素logistic回归分析对HD相关因素进行检验。结果2000 - 2022年，234例6月龄以上儿童因排便问题接受活组织检查（中位年龄47.2月龄（IQR = 17.2-87.2））。其中，234名儿童中有130名接受了RSB， 234名儿童中有112名接受了FTB。1例患者（0.4%）出现RSB （CM1-A）并发症：无明显原因发热。两名患者（0.9%）在FTB后持续直肠出血。一名患者不需要干预（CM1-A），另一名患者接受直肠海绵止血和红细胞输血（CM2）。最常见的最终诊断是功能性便秘（n = 179, 76.5%）、HD （n = 25, 10.6%）和食物不耐受（n = 5, 2.1%）。HD的相关因素为腹胀（OR 5.41, CI 2.05-14.31）、呕吐（OR 4.14, CI 1.64-11.85）和无腹痛（OR 0.14, CI 0.03-0.65）（模型R2 = 0.278）。结论：对于6个月以上怀疑患有HD的儿童，如果排除其他便秘原因，我们建议进行直肠活检，因为直肠活检是一种安全的手术，只有轻微的并发症。年龄大于6个月的患者进行直肠活检时最常见的诊断是功能性便秘。证据等级：III级。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of pediatric surgery 医学-外科

CiteScore

1.10

自引率

12.50%

发文量

569

审稿时长

38 days

期刊介绍： The journal presents original contributions as well as a complete international abstracts section and other special departments to provide the most current source of information and references in pediatric surgery. The journal is based on the need to improve the surgical care of infants and children, not only through advances in physiology, pathology and surgical techniques, but also by attention to the unique emotional and physical needs of the young patient.