Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan.
Department of Human Pathology, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan.
Eur J Pediatr Surg. 2024 Jun;34(3):274-281. doi: 10.1055/a-2065-9071. Epub 2023 Mar 30.
A biopsy protocol for diagnosing Hirschsprung's disease (HD) in children using the anorectal line (ARL).
The ARL was adopted for diagnosing HD in 2016 using two excisional submucosal rectal biopsies performed at different levels, sequentially; the first just above the ARL and the second, further proximal (2-ARL). Currently, only the first-level biopsy is performed (1-ARL) and examined intraoperatively. Management was observation if normoganglionic, pull-through if aganglionic, and a second-level biopsy if hypoganglionic. Hypoganglionosis was considered physiologic if the second-level biopsy was normoganglionic and pathologic if hypoganglionic. Colon caliber change and bowel obstructive symptoms reflect the severity of hypoganglionosis.
For 2-ARL ( = 54), results were: normoganglionosis ( = 31/54; 57.4%), aganglionosis ( = 19/54; 35.2%), and hypoganglionosis ( = 4/54; 7.4%); physiologic ( = 3/54; 5.6%) and pathologic ( = 1/54; 1.9%). Normoganglionosis and aganglionosis were always duplicated in 2-ARL (kappa = 1.0). For 1-ARL ( = 36), results were: normoganglionosis ( = 17/36; 47.2%), aganglionosis ( = 17/36; 47.2%), and hypoganglionosis ( = 2/36; 5.6%). Second-level biopsies were normoganglionic (physiologic: = 1) and hypoganglionic (pathologic: = 1). All normoganglionic cases, except one, resolved conservatively. All aganglionic cases had pull-through with HD confirmed on histopathology. Both pathologic hypoganglionic cases had caliber change and severe obstructive symptoms as definitive indications for pull-through with hypoganglionosis of the entire rectum confirmed on histopathology. Physiologic hypoganglionic cases were observed and currently have regular defecation.
Because the ARL is an objective functional, neurologic, and anatomic demarcation, normoganglionosis and aganglionosis can be diagnosed accurately with a single excisional biopsy. Only hypoganglionosis requires a second-level biopsy.
一种使用肛直肠线（ARL）诊断儿童先天性巨结肠（HD）的活检方案。
2016 年，我们采用两种不同水平的直肠黏膜下切除活检术（ARL）诊断 HD，分别为 ARL 上方的第一级活检（1-ARL）和更靠近近端的第二级活检（2-ARL）。目前，仅行第一级活检（1-ARL），并在术中检查。如果神经节正常，则观察；如果无神经节，则行拖出术；如果神经节减少，则行第二级活检。如果第二级活检神经节正常，则认为第一级活检的神经节减少是生理性的；如果第二级活检神经节减少，则认为是病理性的。结肠口径变化和肠阻塞症状反映了神经节减少的严重程度。
对于 2-ARL（ = 54），结果为：神经节正常（ = 31/54；57.4%）、无神经节（ = 19/54；35.2%）和神经节减少（ = 4/54；7.4%）；生理性（ = 3/54；5.6%）和病理性（ = 1/54；1.9%）。神经节正常和无神经节在 2-ARL 中总是重复（kappa = 1.0）。对于 1-ARL（ = 36），结果为：神经节正常（ = 17/36；47.2%）、无神经节（ = 17/36；47.2%）和神经节减少（ = 2/36；5.6%）。第二级活检神经节正常（生理性： = 1）和神经节减少（病理性： = 1）。除 1 例外，所有神经节正常的病例均保守治疗缓解。所有无神经节的病例均行拖出术，组织病理学证实为 HD。两个病理性神经节减少的病例均有口径变化和严重的阻塞症状，作为整个直肠均行拖出术的明确指征，组织病理学证实为直肠神经节减少。生理性神经节减少的病例则进行观察，目前排便正常。
由于 AR 是一种客观的功能、神经和解剖学界限，因此可以通过单次切除活检准确诊断神经节正常和无神经节，仅神经节减少需要进行第二级活检。
