Início Abordagem inicial em neonatologia na presença de erro inato do metabolismo
neonato
Abordagem inicial em neonatologia na presença de erro inato do metabolismo
Resumo:
Introduction: Inborn errors of metabolismo (EIM) are inherited diseases of a single gene that result in defects in the body's biochemical pathways. Although these disorders are individually rare, collectively they are responsible for a significant portion of childhood disabilities and deaths. Review: Health care professionals still find it difficult to identify cases of these diseases early and to establish appropriate therapy. Thus, the aim of the study is to understand how the initial approach in neonatology should be when identifying an IMT in a patient. The methodology used in the development of this study was a qualitative review of the literature. Discussion: 13 references were selected, 10 of which were scientific articles, a Technical Manual from the Ministry of Health and two reports on the expanded Pezinho test. In total, eight are in Portuguese and five in English. Final considerations: The results of the research showed that, in the event of a suspicion of an EIM, the neonatal health team must follow the following protocol: perform the diagnostic test; stop catabolism by providing glucose; administer supportive care; remove toxic metabolites; consider sepsis (as this can mimic metabolic disease). Treatment approaches such as special diets, enzyme replacement therapy, substrate inhibition and organ transplantation have been widely used. It is essential, therefore, that the neonatal health team is trained and updated on innovations in this area, in order to provide the patient with the best option of health care.
Keywords: inborn error of metabolism, neonate, neonatal screening test.
Expandir Resumo
Acessar Texto Completo