Biopsy diagnosis of Hirschsprung’s Disease using a single excisional biopsy based on the anorectal line.
Biopsy diagnosis of Hirschsprung’s Disease using a single excisional biopsy based on the anorectal line.
复制标题
使用基于肛门直肠线的单次切除活检对先天性巨结肠进行活检诊断。
DOI：
10.1055/a-2065-9071
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发表时间：
2023
影响因子：
1.8
通讯作者：
Yamataka Atsuyuki
中科院分区：
文献类型：
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作者：
Takeda Masahiro;Ochi Takanori;Koga Hiroyuki;Tsuboi Koichi;Arakawa Atsushi;Lane Geoffrey J;Yamataka Atsuyuki
应用肛肠线（ARL）诊断儿童先天性巨结肠病（HD）的活检方案。材料与方法2016年采用ARL诊断HD，分别进行两次不同水平的直肠粘膜下切除活检；第一个在ARL上方，第二个在更远的近端（2-ARL）。目前，只进行一级活检（1-ARL）并术中检查。如果是正常神经节，则进行观察，如果是神经节，则进行拉断，如果是低神经节，则进行第二级活检。如果第二级活检是正常神经节，则认为神经节减少是生理性的，如果是病理性的。结肠口径改变和肠梗阻症状反映神经节减少症的严重程度。结果2-ARL患者（n= 54）：正常神经节病（n= 31/54, 57.4%）、神经节病（n= 19/54, 35.2%）、神经节过低症（n= 4/54, 7.4%）；生理性（n= 3/54; 5.6%）和病理学（n= 1/54; 1.9%）。正常神经节病和神经节病在2-ARL中总是重复出现（kappa = 1.0）。对于1-ARL (n= 36)，结果为：正常神经节病（n= 17/36; 47.2%），神经节病（n= 17/36; 47.2%）和神经节减退症（n= 2/36; 5.6%）。二级活检为正常神经节（生理：n= 1）和下神经节（病理：n= 1）。除一例外，所有正常神经节的病例均保守解决。所有的神经节瘤病例均经组织病理学证实为HD。两例病理性神经节减少病例均有口径改变和严重的阻塞性症状，这是组织病理学证实的整个直肠神经节减少症的明确适应症。观察到生理性神经节低下病例，目前排便规律。结论由于ARL是一个客观的功能、神经和解剖分界，正常神经节病和神经节病可通过单次切除活检准确诊断。只有神经节过少症需要第二级活检。
IntroductionA biopsy protocol for diagnosing Hirschsprung's disease (HD) in children using the anorectal line (ARL).Materials and MethodsThe 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.ResultsFor 2-ARL (n= 54), results were: normoganglionosis (n= 31/54; 57.4%), aganglionosis (n= 19/54; 35.2%), and hypoganglionosis (n= 4/54; 7.4%); physiologic (n= 3/54; 5.6%) and pathologic (n= 1/54; 1.9%). Normoganglionosis and aganglionosis were always duplicated in 2-ARL (kappa = 1.0). For 1-ARL (n= 36), results were: normoganglionosis (n= 17/36; 47.2%), aganglionosis (n= 17/36; 47.2%), and hypoganglionosis (n= 2/36; 5.6%). Second-level biopsies were normoganglionic (physiologic:n= 1) and hypoganglionic (pathologic:n= 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.ConclusionBecause 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.