Aspectos genéticos da doença de Hirschsprung: uma revisão integrativa dos genes confirmados e candidatos a patogenia

Abstract

Hirschsprung disease, also known as congenital aganglionic megacolon, is a rare disorder characterized by genetic heterogeneity and association with different genes and polymorphisms, which make it difficult to determine the genetic etiology of the disease. So, the objective of this study was to make an integrative review of the literature on the genetic aspects of Hirschsprung disease relating to the confirmed genes and candidates for its pathogenesis. For this purpose, this work was produced divided into the following phases: problem base, data collecting, evaluation of data for inclusion/exclusion, systematic analysis of data for categorization, presentation and interpretation of results and discussion. Thus, the information was carefully analyzed and systematically organized, giving rise to two classes: mutations recognized as pathogenic and mutations reported, but with only suggested pathogenicity. Articles were collected that identified the RET, MAPK10, ZFHX1B, SOX2, CaSR, DSCAM, EDNRB, EDN3, SLC6A20, NRG1, SEMA3 genes and their polymorphisms with potential for disease association, and HSCR candidate genes. However, for methodological reasons, the present study will necessarily require future research that categorizes the data to avoid publication data, ensuring a safe analysis of the information suggested in the literature.