Vincent Sage A, Evans Lauren L, Tong Suhong, Mashhadi Madhi P, Arnold Michael, Lovell Mark, Bischoff Andrea, De La Torre Luis
Department of Pediatric Surgery, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Inernational Center for Colorectal and Urogenital Care, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Pediatr Surg Int. 2025 Jun 4;41(1):158. doi: 10.1007/s00383-025-06060-4.
Hirschsprung disease (HD) is defined by absent ganglion cells in the rectum and, often, by hypertrophic nerve fibers. However, these hypertrophic nerves may be lacking when aganglionosis extends beyond the sigmoid colon. This study examines histopathological differences in rectal biopsies from HD patients, focusing on hypertrophic nerves and their correlation with aganglionosis length.
This retrospective study analyzed patients with HD at a single institution from January 2016 to February 2025. Rectal biopsy and pull-through specimen pathology reports were reviewed to assess for hypertrophic nerves, focusing on differences among various lengths of HD.
There were 256 patients included, with diagnosed short-segment (n = 209), long-segment (n = 19), total colonic (n = 13), small intestinal (n = 10), and total intestinal HD (n = 5). Hypertrophic nerves were absent on rectal biopsy in 13 of 209 short-segment and 15 of 47 patients with extended aganglionosis. Absence of hypertrophic nerves on rectal biopsy was predictive of aganglionosis beyond the sigmoid (OR = 6.13, 95% CI 2.73, 13.78), with sensitivity of 32.6% and specificity of 93.7%.
The absence of hypertrophic nerves suggests a more proximal extent of aganglionosis; however, their presence has poor sensitivity for ruling out long-segment variants. These findings could guide pre-operative counseling and surgical planning, though prospective evaluation is needed.
先天性巨结肠病（HD）的定义是直肠中缺乏神经节细胞，且常伴有肥厚的神经纤维。然而，当无神经节症延伸至乙状结肠以外时，这些肥厚的神经可能不存在。本研究检查HD患者直肠活检的组织病理学差异，重点关注肥厚神经及其与无神经节症长度的相关性。
这项回顾性研究分析了2016年1月至2025年2月在单一机构就诊的HD患者。回顾直肠活检和拖出标本的病理报告，以评估肥厚神经，重点关注不同长度HD之间的差异。
共纳入256例患者，诊断为短段型（n = 209）、长段型（n = 19）、全结肠型（n = 13）、小肠型（n = 10）和全肠型HD（n = 5）。209例短段型患者中有13例以及47例无神经节症延伸患者中有15例直肠活检未见肥厚神经。直肠活检未见肥厚神经可预测无神经节症延伸至乙状结肠以外（OR = 6.13，95%CI 2.73，13.78），敏感性为32.6%，特异性为93.7%。
肥厚神经的缺失提示无神经节症范围更靠近近端；然而，其存在对排除长段型变异的敏感性较差。这些发现可为术前咨询和手术规划提供指导，不过仍需要进行前瞻性评估。
