Huntley C C, Shaffner L D, Challa V R, Lyerly A D
Pediatrics. 1982 Jun;69(6):755-61.
A histochemical staining technique for detection of acetylcholinesterase (AChE) in rectal suction biopsies was compared with the presence or absence of ganglion cells in full-thickness or suction biopsies for the diagnosis of Hirschsprung disease (HD) in infants and children. Biopsies from 55 of 58 children were adequate for both the AChE assay and routine pathologic examination for ganglion cells. Two patterns of AChE staining were noted. With pattern A, prominent nerve fibers staining for AChE were seen throughout the muscularis mucosa and the lamina propria. With pattern B, similar fibers were seen only in the muscularis mucosa and the areas of lamina propria that were immediately adjacent. No "false-negative" AChE staining reactions were found in patients with HD. No "false-positive" reactions showing pattern A were found. This pattern was diagnostic for HD. Three false-positive reactions were found showing pattern B in patients with conditions other than HD. Among 22 patients with HD, 19 were males and three were females. Pattern A occurred in all age groups and in both sexes. Pattern B in patients with HD was seen exclusively in male infants 1 month of age or less. Experience suggests that the AChE staining of rectal suction biopsies is an excellent screening test for HD in infants and children. If pattern B is encountered, however, the specimen should be examined by routine pathologic techniques for the presence of submucosal ganglion cells.
一种用于检测直肠吸引活检组织中乙酰胆碱酯酶（AChE）的组织化学染色技术，与全层活检或吸引活检中神经节细胞的有无进行比较，以诊断婴幼儿和儿童的先天性巨结肠病（HD）。58名儿童中有55名儿童的活检组织既适合进行AChE检测，也适合进行神经节细胞的常规病理检查。观察到两种AChE染色模式。模式A表现为在黏膜肌层和固有层可见显著的AChE染色神经纤维。模式B表现为仅在黏膜肌层和紧邻的固有层区域可见类似纤维。HD患者未发现“假阴性”AChE染色反应。未发现显示模式A的“假阳性”反应。这种模式对HD具有诊断意义。在非HD患者中发现3例显示模式B的假阳性反应。22例HD患者中，19例为男性，3例为女性。模式A在所有年龄组和男女中均有出现。HD患者中的模式B仅见于1个月及以内的男婴。经验表明，直肠吸引活检组织的AChE染色是婴幼儿和儿童HD的一项优秀筛查试验。然而，如果遇到模式B，标本应通过常规病理技术检查黏膜下神经节细胞的有无。
