FAVISMO ASOCIADO A DÉFICIT DE GLUCOSA 6 FOSFATO DESHIDROGENASA: REPORTE DE CASO EN PACIENTE PEDIÁTRICO

Abstract

Glucose 6 phosphate dehydrogenase deficiency (G6PD) is the most common metabolic disorder of red blood cells, being hemolytic anemia its most frequent presentation which can be triggered by infectious processes, medications or the ingestion of fava beans; the latter called Favism. Objective: To describe the clinical presentation of G6PD deficiency in a child after consumption of fava beans. Clinical case: 3 year old male, who presents with generalized jaundice associated with choluria, consumption of fava beans prior to the onset of symptoms, favism is suspected. Moderate anemia, indirect bilirubin increase, elevation of lactate, peripheral blood smears with spherocytes, and polychromatophilia were documented. Management with folic acid was initiated. A measurement of G6PD enzyme was performed and a moderate (class III) deficiency was confirmed. Conclusion: G6PD deficiency is a diagnostic challenge. With proper management and prevention, cases with severe hemolysis can be avoided. It is important to introduce G6PD analysis in neonatal screening in order to achieve a decrease in infant morbidity and mortality.