Short summary

Morbus Hirschsprung (MH) is a congenital malformation of the intrinsic nervous system in the distal colon. The condition requires surgery with removal of the affected segment and, if possible, the continuation of the GI tractus is restored. Unfortunately, the functional results are not always satisfactory and the reason is far from fully understood. The aim of the study is to evaluate the functional result of surgery by registration of the operative technique and the course of the condition, QoL and continence questionnaires, scintigraphic defaecography and colonic transit time. Furthermore, we do a protein investigation of mucoproteins of the colon. 

---

Rationale

The Danish population of patients treated for MH has no systematic follow up after surgery and the knowledge of their functional outcome are not systematic evaluated. The condition is rare, seen in approximately in 1:5000 new-borns, girl-boy ratio 1:4.  Absent of ganglionic cells accompanied by   hypertrophic nerve fibre is the classical histological finding in MH.

We still do not have a good explanation for the dysmotility in the remaining gut. The protein investigation is a new way to explore the pathophysiology in the gut.

Hypotheses:

• The functional result will be different among Soave's procedure, Rehbeins procedure and pull-through.
• The result of the motility investigations can be related to the functional result indicated in the questionnaires.
• The proteomic profile can be related to the functional result indicated in the questionnaires.
• The proteomic profile will be different in affected and normal colon.

---

Description of the cohort

Study I: Descriptive study as mentioned in the short summery on patients with MH treated in the period 1985-1014 on OUH. Nearly 300 patients have been identified.

Study II: Protein profiling of the mucoproteins of the colon. We will obtain samples from the cohort from study I and from a prospective study on children during surgery for MH and from healthy control groups for both cohorts.

Data and biological material

Bloodsample and biopsies obtained from the colonic mucosa during endoscopy and operation.

Register data and QoL questionnaires.

Scintigraphic defecography and colon transit time.

Collaborating researchers and departments

Department of Pathology, Odense University Hospital

• Consultant Gunvor Iben Madsen

Department of Nuclear Medicine, Odense University Hospital

• Consultant Jane Simonsen

Centre for Clinical Proteomics, University of Southern Denmark

• Professor & Head of Research Lars Melholt Rasmussen