Małdyk Jadwiga, Rybczyńska Jolanta, Piotrowski Dariusz, Kozielski Rafał
Jadwiga Małdyk Department of Pathology Warsaw Medical University Marszalkowska 24 00-576 Warsaw, Poland e-mail:
Pol J Pathol. 2014 Mar;65(1):34-9. doi: 10.5114/pjp.2014.42667.
Hirschsprung disease (HD) is a congenital malformation defined as the absence of myenteric and submucosal ganglion cells (GCs) in the distal rectum and variable length of the contiguous bowel. The aim of this study was to assess the utility of calretinin immunochemistry in comparison with that of standard histology complemented with acetylcholinesterase (AChE) histochemistry routinely employed at our institution to evaluate rectal biopsies carried out for suspicion of HD. Twenty-one rectal biopsies were reviewed, including 14 from patients with suspected HD, 6 from infants with necrotizing enterocolitis (NEC), and 1 from a patient diagnosed with spontaneous intestinal perforation (SIP). Sections stained with hematoxylin-eosin (HE) revealed absence of ganglion cells in 13 cases which included 11 patients with HD and 2 patients with NEC. Among 13 cases of aganglionosis the AChE reaction pattern was consistent with HD in 2 patients. Calretinin positivity was observed in all rectal biopsies showing the presence of GC, and the staining was consistently absent in all cases of aganglionosis. In 6 rectal biopsies in which abnormal acetylcholinesterase (AChE) staining was not seen, loss of calretinin immunoreactivity helped establish the diagnosis of HD.
先天性巨结肠（HD）是一种先天性畸形，定义为直肠远端及相邻肠段不同长度范围内缺乏肌间神经节细胞和黏膜下神经节细胞（GCs）。本研究的目的是评估钙视网膜蛋白免疫组织化学的效用，并与我们机构常规用于评估因怀疑HD而进行的直肠活检的标准组织学（辅以乙酰胆碱酯酶（AChE）组织化学）进行比较。回顾了21例直肠活检病例，包括14例疑似HD患者的活检、6例坏死性小肠结肠炎（NEC）婴儿的活检以及1例诊断为自发性肠穿孔（SIP）患者的活检。苏木精-伊红（HE）染色切片显示13例无神经节细胞，其中包括11例HD患者和2例NEC患者。在13例无神经节细胞症病例中，2例患者的AChE反应模式与HD一致。在所有显示有GC的直肠活检中均观察到钙视网膜蛋白阳性，而在所有无神经节细胞症病例中染色均持续缺失。在6例未见到异常乙酰胆碱酯酶（AChE）染色的直肠活检中，钙视网膜蛋白免疫反应性的丧失有助于确立HD的诊断。
