Sowulewski Oliver, Bubińska Magdalena, Zagierska Agnieszka, Zagierski Maciej, Szlagatys-Sidorkiewicz Agnieszka
Department of Paediatrics, Gastroenterology, Allergology & Paediatric Nutrition, Medical University of Gdańsk, 80-210 Gdańsk, Poland.
J Clin Med. 2024 Feb 23;13(5):1268. doi: 10.3390/jcm13051268.
Hirschsprung's disease (HD) is characterized by a congenital absence of enteric ganglion cells in the intestine, posing challenges in diagnosis, particularly in pediatric patients. The gold standard, rectal suction biopsy (RSB), carries risks, prompting an exploration of non-invasive alternatives such as high-resolution anorectal manometry (HR-ARM) for HD screening. We conducted a retrospective analysis of 136 patients suspected of HD between 2018 and 2022, which were stratified into three age groups: ≤12 months, ≤24 months, and >24 months. Criteria for suspicion included delayed meconium passage, unresponsive chronic constipation, and abnormal prior test results. HR-ARM, supplemented by additional tests, confirmed 16 HD cases. HR-ARM exhibited 93.75% sensitivity, 89.47% specificity, 99.03% negative predictive value (NPV), and 55.56% positive predictive value (PPV). Notably, HR-ARM consistently performed well in patients ≤ 2 years old but demonstrated reduced efficacy in older children, which was likely due to complications from chronic constipation. This study underscores HR-ARM's promise as a non-invasive HD screening tool, especially in younger patients. However, its limitations in older children warrant consideration. Establishing standardized protocols, particularly for assessing the recto-anal inhibitory reflex, is crucial. Further research is imperative to optimize HR-ARM's diagnostic role across varied age groups in HD assessment.
先天性巨结肠(HD)的特征是肠道中先天性缺乏肠神经节细胞,这给诊断带来了挑战,尤其是在儿科患者中。金标准直肠吸引活检(RSB)存在风险,促使人们探索诸如高分辨率肛门直肠测压法(HR-ARM)等非侵入性替代方法用于HD筛查。我们对2018年至2022年间136例疑似HD的患者进行了回顾性分析,这些患者被分为三个年龄组:≤12个月、≤24个月和>24个月。疑似标准包括胎粪排出延迟、慢性便秘无反应以及先前检查结果异常。HR-ARM辅以其他检查,确诊了16例HD病例。HR-ARM的敏感性为93.75%,特异性为89.47%,阴性预测值(NPV)为99.03%,阳性预测值(PPV)为55.56%。值得注意的是,HR-ARM在≤2岁的患者中始终表现良好,但在大龄儿童中疗效降低,这可能是由于慢性便秘的并发症所致。本研究强调了HR-ARM作为一种非侵入性HD筛查工具的前景,尤其是在较年轻的患者中。然而,其在大龄儿童中的局限性值得考虑。制定标准化方案,特别是用于评估直肠肛门抑制反射的方案至关重要。必须进行进一步研究以优化HR-ARM在HD评估中不同年龄组的诊断作用。