A relevância do suporte nutricional e cuidado intensivo em lactente com hiperglicinemia não cetótica: um relato de caso

• Autor(a) principal: Nascimento, Bianka Martins da Silva
• Data de Publicação: 2020
• Tipo de documento: Trabalho de conclusão de curso
• Idioma: por
• Título da fonte: Repositório do Centro Universitário Braz Cubas
• Texto Completo: https://repositorio.cruzeirodosul.edu.br/handle/123456789/1306
• topic: Hiperglicinemia não cetótica; Lactente; Cuidado intensivo; Suporte nutricional; CNPQ::CIÊNCIAS DA SAÚDE::MEDICINA

The nonketotic hyperglycinemia is a rare genetic disease that curses with elevation of glycine in the newborn’s body fluids caused by an innate error in the metabolismo (EIM) of this aminoacid with severe and early neurological signs and symptoms. A case report was made of an infant hospitalized in the Pediatric Intensive Care Unit (ICU) in a pediatric hospital in the city of João Pessoa - PB with progressive neuropsychomotor delay associated with the clinical of convulsive crises difficult to control, hypotonia, weak suction, respiratory distress and recurrent upper airway infections, requiring permanent invasive mechanical ventilation (IMV). The investigation for innate metabolism errors was carried out and the diagnosis of non-ketotic hyperglycemia was confirmed. The aim of this study is to describe a rare pathology that occurred in an infant admitted at a pediatric reference in the State of Paraíba, highlighting its clinical-epidemiological characteristics that help in the suspicion, logical reasoning and early diagnosis and intervention of the disease. The design of this study was a case report, which was based on a descriptive, cross-sectional and observational study with a single arm, which collected data directly from the patient's chart with the aid of the use of pen, paper and file in Word with the main data. As a result of the present study, a case report was prepared based on the description of a rare pathology that affected the child. Therefore, it is important to emphasize the importance of early diagnosis of this pathology, which, due to its severity, usually occurs in the ICU, to avoid the irreversible complications to be reported in this case, in addition to ratifying nutritional support as a significant prognostic factor in patients. It is important to emphasize that the present research respected the necessary ethical aspects, respecting the confidentiality of the patient and the family, as well as they were instructed about the interruption of the reaserch if requested.