Beltman Lieke, Labib Hosnieya, Masselink Marit, Backes Manouk, Benninga Marc A, Roelofs Joris J T H, van der Voorn J Patrick, van Schuppen Joost, Oosterlaan Jaap, van Heurn L W Ernest, Derikx Joep P M
Department of Pediatric Surgery, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.
Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me Program & Emma Neuroscience Group, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.
Eur J Pediatr Surg. 2023 Oct;33(5):360-366. doi: 10.1055/s-0043-1760839. Epub 2023 Feb 1.
The gold standard for diagnosing Hirschsprung disease (HD) in patients younger than 6 months is pathological examination of rectal suction biopsy (RSB). The aim of this study was to gain insight into the following: (1) complications following RSB, (2) final diagnosis of patients referred for RSB, and (3) factors associated with HD.
Patients suspected of HD referred for RSB at our center were analyzed retrospectively. Severity of complications of RSB was assessed using Clavien-Dindo (CD) grading. Factors associated with HD were tested using multivariate logistic regression analysis.
From 2000 to 2021, 371 patients underwent RSB because of infrequent defecation, at a median age of 44 days. Three patients developed ongoing rectal bleeding (0.8%) graded CD1. Most frequent final diagnoses were: HD (n = 151, 40.7%), functional constipation (n = 113, 31%), idiopathic meconium ileus (n = 11, 3%), and food intolerance (n = 11, 3%). Associated factors for HD were male sex (odds ratio [OR], 3.19; confidence interval [CI], 1.56-6.53), presence of syndrome (OR, 7.18; CI, 1.63-31.69), younger age at time of RSB (OR, 0.98; CI, 0.85-0.98), meconium passage for more than 48 hours (OR, 3.15; CI, 1.51-6.56), distended abdomen (OR, 2.09; CI, 1.07-4.07), bilious vomiting (OR, 6.39; CI, 3.28-12.47), and failure to thrive (OR, 8.46; CI, 2.11-34.02) (model = 0.566).
RSB is a safe procedure with few and only minor complications. In the majority of patients referred for RSB under the age of 6 months, HD was found followed by a functional cause for the defecation problems. RSB should be obtained on a low threshold in all patients under the age of 6 months with the suspicion of HD.
对于6个月以下的先天性巨结肠（HD）患者，诊断的金标准是直肠吸引活检（RSB）的病理检查。本研究的目的是深入了解以下方面：（1）RSB后的并发症；（2）因RSB就诊患者的最终诊断；（3）与HD相关的因素。
对我院因疑似HD而接受RSB的患者进行回顾性分析。采用Clavien-Dindo（CD）分级评估RSB并发症的严重程度。使用多因素逻辑回归分析检测与HD相关的因素。
2000年至2021年，371例患者因排便不频繁接受RSB，中位年龄为44天。3例患者出现持续性直肠出血（0.8%），CD分级为1级。最常见的最终诊断为：HD（n = 151，40.7%）、功能性便秘（n = 113，31%）、特发性胎粪性肠梗阻（n = 11，3%）和食物不耐受（n = 11，3%）。HD的相关因素包括男性（比值比[OR]，3.19；置信区间[CI]，1.56 - 6.53）、综合征的存在（OR，7.18；CI，1.63 - 31.69）、RSB时年龄较小（OR，0.98；CI，0.85 - 0.98）、胎粪排出超过48小时（OR，3.15；CI，1.51 - 6.56）、腹部膨胀（OR，2.09；CI，1.07 - 4.07）、胆汁性呕吐（OR，6.39；CI，3.28 - 12.47）和生长发育迟缓（OR，8.46；CI，2.11 - 34.02）（模型 = 0.566）。
RSB是一种安全的操作，并发症少且仅为轻微并发症。在大多数转诊接受RSB的6个月以下患者中，诊断为HD，其次是排便问题的功能性原因。对于所有怀疑患有HD的6个月以下患者，应在低阈值下进行RSB。
