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

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. 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. 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%). 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.