Hirschsprung’s disease (HD) is a congenital disease manifesting various degrees of functional bowel obstruction caused by the absence of enteric ganglion cells, which are usually absent in the colonic segment of the HD patient. Because the aganglionic segment of HD always includes the rectum, pathological diagnosis can be made using a rectal sample. HD should be diagnosed as early as possible because serious complications, such as acute enterocolitis or toxic megacolon, can develop without a definitive diagnosis and appropriate treatment. In the mid-1900s, HD was diagnosed by HE staining of specimens obtained by full-thickness biopsy. Since then, the combination of rectal mucosal biopsy and rubeanic acid-amplificated AChE staining has been brought about by the following milestones: the discovery that the submucosal plexus and the intermuscular plexus had the same level of nerve migration; the findings of research on acetylcholine (ACh) and acetylcholinesterase (AChE) in the intestinal tract; and the establishment of a rubeanic acid amplification method. Consequently, the diagnostic rate of HD improved dramatically in the 1980s. This review outlines the history of diagnostic methods for HD, the roles of ACh and AChE in the intestine, and the method of AChE staining.
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Enteric nerve system
Rectal mucosal biopsy
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This study was supported in part by Grants from The Ministry of Health, Grants-in-Aid for Scientific Research (18K16260). We thank Rie Funatsu and Tomoko Yamazaki of the Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, for their excellent assistance.
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Yoshimaru, K., Yanagi, Y., Obata, S. et al. Acetylcholinesterase staining for the pathological diagnosis of Hirschsprung’s disease. Surg Today (2020). https://doi.org/10.1007/s00595-020-02055-x
- Hirschsprung’s disease
- Acetylcholinesterase staining
- Rectal biopsy