RESUMEN
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.
Asunto(s)
Favismo/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Vicia faba/efectos adversos , Preescolar , Deficiencia de Glucosafosfato Deshidrogenasa/fisiopatología , Humanos , Hiperbilirrubinemia Neonatal/patología , MasculinoRESUMEN
Background: We report a 67-year-old man presenting with abdominal pain of acute onset, pallor, jaundice and behavioral changes after ingestion of fava beans. In the initial evaluation he appeared acutely ill and had resting dyspnea, edema and jaundice. His initial laboratory assessment disclosed azotemia, elevated lactate dehydrogenase levels, a low hemoglobin concentration (4.9 /dL) and a high corrected reticulocyte count (4,7%) with negative direct and indirect Coombs' test. The patient was transferred to the ICU, where he received support therapy with hemodialysis, mechanical ventilation, vasoactive drugs and transfusions of packed red cells. The evolution after 1 month was favorable and he was discharged without anemia and with normal renal function. Three months after discharge, the glucose-6-phosphate-dehydrogenase screening study did not demonstrate detectable enzymatic activity.
Asunto(s)
Anciano , Humanos , Masculino , Lesión Renal Aguda/etiología , Favismo/complicaciones , Lesión Renal Aguda/diagnóstico , Favismo/diagnósticoRESUMEN
We report a 67-year-old man presenting with abdominal pain of acute onset, pallor, jaundice and behavioral changes after ingestion of fava beans. In the initial evaluation he appeared acutely ill and had resting dyspnea, edema and jaundice. His initial laboratory assessment disclosed azotemia, elevated lactate dehydrogenase levels, a low hemoglobin concentration (4.9 /dL) and a high corrected reticulocyte count (4,7%) with negative direct and indirect Coombs' test. The patient was transferred to the ICU, where he received support therapy with hemodialysis, mechanical ventilation, vasoactive drugs and transfusions of packed red cells. The evolution after 1 month was favorable and he was discharged without anemia and with normal renal function. Three months after discharge, the glucose-6-phosphate-dehydrogenase screening study did not demonstrate detectable enzymatic activity.
Asunto(s)
Lesión Renal Aguda/etiología , Favismo/complicaciones , Lesión Renal Aguda/diagnóstico , Anciano , Favismo/diagnóstico , Humanos , MasculinoAsunto(s)
Lactante , Humanos , Favismo/diagnóstico , Anemia/etiología , Evolución Clínica , Favismo/complicaciones , Ictericia/etiologíaRESUMEN
We describe a case of favism in a female newborn infant with glucose-6-phosphate dehydrogenase (G6PD) deficiency whose mother had ingested fava beans 5 days before delivery. At birth there were clinical and hematologic signs of hemolytic anemia, hemoglobinuria, and no blood group immunization. Study of the G6PD activity and 2-deoxy-glucose-6-phosphate utilization rate revealed that the infant and the mother were heterozygous for G6PD deficiency.