The importance of calretinin in the diagnosis of Hirschsprung's disease

Abstract

Relevance: Hirpsprung's disease most often manifests as symptoms of intestinal obstruction, characterized by the colon nervous system congenital disability, frequent bloating, and impaired stool passage up to the clinic of intestinal obstruction. In recent years, this pathology has belonged to the group of neuro-crystopathy. The leading cause of death is the development of severe enterocolitis. Due to the lack of clear clinical manifestations, it is often observed that this disease goes undetected during the neonatal period. Currently, the only treatment is surgery. The final diagnosis is made after examining histopathological specimens, the diagnosis of which is difficult due to incomplete differentiation of the mucous and intermuscular layers in infancy. Modern diagnostic methods, including immunohistochemistry with calretinin, show its high efficiency.
The study aimed to evaluate calretinin's effectiveness in diagnosing Hirschsprung's disease.
Materials and Methods: We analyzed the medical records of 61 patients treated from birth to 3 months from 2017 to 2022 and their histopathological materials. Histopathological examination was performed first by hemotoxylin-eosin method, then by immunohistochemistry with a monoclonal antibody against calretinin.
Results: This study characterized critical clinical features of Hirschsprung's disease. Pronounced clinical manifestations of the disease began at 2 months of life in 36% (22) and up to 3 months – in 34% (21) of patients. In the study, delay of the first stool for up to 2 days was observed in 82% (50) of patients. The examined children had a gestational age greater than 38 weeks. According to the nosological structure, a rectosigmoid type of intestinal lesion was identified in 82% (50) of patients. The mortality rate was 3% (2). Complications after surgical treatment were not recorded. Loss of calretinin immunoreactive nerves, characteristic of Hirschsprung's disease, was observed in 96% (59) of cases. Genetic testing was performed on 21 (34%) patients, and RET mutations were found in 14% (3).
Conclusion: Along with general research methods in diagnosing Hirschsprung's disease, which make it possible to make a final diagnosis, modern research methods have shown to be highly effective. Early detection and prompt assistance to patients with Hirschsprung's disease allow them to rehabilitate and avoid complications that arise after surgery quickly.