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

Pediatr Surg Int. 2017 Feb;33(2):173-179. doi: 10.1007/s00383-016-4010-2. Epub 2016 Nov 10.

Abstract

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.

Keywords: Acetylcholinesterase staining; Diagnosis; Hirschsprung’s disease; Punch biopsy; Rectal mucosal biopsy.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biopsy / methods
  • Child
  • Child, Preschool
  • Female
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / pathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mucous Membrane / pathology
  • Rectum / pathology*
  • Retrospective Studies
  • Young Adult