OBJECTIVETo investigate the distribution of connexin 43 (Cx43) and interstitial cells of Cajal (ICC) in bowels of children with Hirschsprung's disease (HD) and explore their roles in the pathogenesis of HD.

METHODSForty-two children with HD diagnosed by histopathology (33 males and 9 females) aged from 2 months to 10 years were enrolled. Expression of Cx43 and ICC in the bowels was detected using immunohistochemistry. These cases were all sporadic, including 30 cases of common type and 12 cases of short segment type. Five samples from the children with intussusception (aged from 1 month to 8 years) were used as controls.

RESULTSCx43 and ICC were not expressed in the muscle layers of the aganglionic segment in children with HD, which was significantly different from the Cx43 and ICC expression in the ganglionic segment of HD patients and the control bowels. Moderate expression of Cx43 and ICC were observed in the migratory segment, which was significantly different from that in the ganglionic and aganglionic segments in patients with HD. Moderate or strong expression of Cx43 and ICC was observed in the circular muscle and the region between the circular and longitudinal layer in the ganglionic segment from patients with HD. There were no significant differences in the Cx43 and ICC expression between the ganglionic segment of HD patients and control bowels.

CONCLUSIONSThe absence of Cx43 and ICC expression in the aganglionic bowel and the destruction of the gap junction may induce the dysfunctions of intercellular substance exchange and communication transmission, which might partly be responsible for the pathogenesis of HD.