RESUMO
INTRODUCTION: Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. OBJECTIVE: To analyze the case of a child who presented hemolytic crisis due to favism. CASE REPORT: A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency. CONCLUSION: G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age.
Assuntos
Favismo/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Vicia faba/efeitos adversos , Pré-Escolar , Deficiência de Glucosefosfato Desidrogenase/fisiopatologia , Humanos , Hiperbilirrubinemia Neonatal/patologia , MasculinoRESUMO
Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. Objective: To analyze the case of a child who presented hemolytic crisis due to favism. Case report: A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency. Conclusion: G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age.
Introducción: La deficiencia de la glucosa 6-fosfato deshidrogenasa (G6PD) es el trastorno enzimático más frecuente del glóbulo rojo (GR). Tanto la disminución como la ausencia de la enzima aumentan la vulnerabilidad del GR al estrés oxidativo provocado por algunos fármacos o la ingesta de habas. Sus manifestaciones clínicas más frecuentes son hemolisis aguda, hemolisis crónica, hiperbilirrubinemia neonatal, y una forma asintomática. Objetivo: Presentar el caso de un niño que debutó como crisis hemolítica debida a favismo. Caso clínico: Varón 2 años 7 meses con antecedente de hiperbilirrubinemia en el período neonatal sin causa evidente, sin historia familiar de anemia hemolítica ni de consanguinidad paterna. Debutó con un cuadro de ictericia y anemia severa que requirió transfusión de GR. Como antecedente anamnéstico se detectó la ingesta de habas 48 h previo al inicio de los síntomas. La determinación cualitativa de G6PD fue compatible con deficiencia de esta enzima. Conclusión: La deficiencia de G6PD puede ser muy variable en su expresión clínica, por lo cual es necesario tenerla presente dentro del diagnóstico diferencial de las anemias hemolíticas a toda edad.