The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung’s disease: a 30-year experience of 954 patients

Purpose: For 30 years, we have consecutively performed rectal mucosal punch biopsy to diagnose Hirschsprung’s disease. The aim of this study was to evaluate the safety of our technique. Methods: Patients with suspected Hirschsprung’s disease who underwent punch biopsy, including our original “K-PUNCH” method using an S-moid forceps and non-specific blood-collecting tube at our department and branch hospital between April 1986 and March 2016 were included in the present study. Our punch biopsy technique is characterized by excellent visibility and a direct grasping sensation. The backgrounds and complications of the patients were retrospectively investigated. Results: During this period, 954 patients (median age 4 months; range 1 day–73 years) underwent punch biopsy. Although there were no cases of severe complications (i.e., rectal perforation, infection or full-thickness biopsy), one (0.1%) of the 954 cases in the early period showed liver dysfunction and required transfusion due to bleeding. In addition, inappropriate specimens were obtained in 37 patients (3.9%). Conclusion: Punch biopsy including the “K-PUNCH” method is considered safe and feasible and is associated with a low rate of complications and inappropriate specimen harvesting among patients of all ages. Comorbidities, including the potential for hemorrhage, should always be considered.