Immunohistochemical characterization of enteric nervous system diseases: a comparative analysis between patients with Hirschsprung's Disease, Intestinal Neuronal Dysplasia type B and with the association between these two diseases

• Grant number: 23/02646-7
• Support Opportunities: Regular Research Grants
• Start date: December 01, 2023
• End date: November 30, 2025
• Field of knowledge: Health Sciences - Medicine - Surgery
• Principal Investigator: Pedro Luiz Toledo de Arruda Lourencao
• Grantee: Pedro Luiz Toledo de Arruda Lourencao
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil
• Associated researchers: Maria Aparecida Marchesan Rodrigues Kobayasi ; Simone Antunes Terra

Abstract

Hirschsprung's disease (HD) is a congenital malformation of the enteric nervous system, characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the distal intestine. Intestinal Neuronal Dysplasia type B (IND-B) is another neuromuscular, gastrointestinal disease characterized by hyperplasia of the nerve plexuses and increased ganglion cells. The clinical picture of these diseases is quite similar, with constipation and intestinal obstruction, and the differential diagnosis is established by histopathological analysis of rectal biopsies. IND-B may be present in bowel segments proximal to areas of aganglionosis in patients submitted to surgical treatment for HD and is considered a potential cause of persistent obstructive symptoms in the postoperative period. A series of immunohistochemical markers are helpful for the histopathological evaluation of the enteric nervous system. Therefore, we decided to evaluate the immunohistochemical expression of a panel of markers composed of calretinin, Hu C/D, S-100, Bcl-2, ChT, and Pten in colorectal samples from 50 patients with isolated HD (in the aganglionic region and the normoganglionic colon), from 25 patients with HD associated with IND-B (in the aganglionic part and the segment with IND-B), from 30 patients isolated IND-B and from five patients in a control group, without gastrointestinal symptoms, and to compare the results obtained between these different groups. At the end of the study, we aim to identify differences in the expression of these markers, contributing to a better understanding of aspects of pathophysiology and the differential diagnosis between these congenital diseases of the enteric nervous system. (AU)