Glucose-6-phosphate Dehydrogenase Deficiency / 임상소아혈액종양

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder. There are more than 400 million people worldwide with G6PD deficiency, and its distribution is similar to that of malaria. G6PD deficiency is an X-linked recessive disorder. Most patients with G6PD deficiency may be asymptomatic throughout their lives. They may present as neonatal jaundice, or acute and chronic hemolysis. The most important point in the management of G6PD deficiency is to avoid oxidative stress. The prevalence of G6PD deficiency in Korea is about 0.9%. However, a nationwide survey has revealed that the number of patients with enzymopathy is increasing. Immigration of different ethnicities into Korea, and the rise of interracial marriages will likely lead to an increase in the number of patients with G6PD deficiency.

Glucose-6-phosphate Dehydrogenase Deficiency / 임상소아혈액종양

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder. There are more than 400 million people worldwide with G6PD deficiency, and its distribution is similar to that of malaria. G6PD deficiency is an X-linked recessive disorder. Most patients with G6PD deficiency may be asymptomatic throughout their lives. They may present as neonatal jaundice, or acute and chronic hemolysis. The most important point in the management of G6PD deficiency is to avoid oxidative stress. The prevalence of G6PD deficiency in Korea is about 0.9%. However, a nationwide survey has revealed that the number of patients with enzymopathy is increasing. Immigration of different ethnicities into Korea, and the rise of interracial marriages will likely lead to an increase in the number of patients with G6PD deficiency.

Deficiencia de glucosa 6 fosfato deshidrogenasa en niños: caso clínico / Glucose-6-phosphate dehydrogenase deficiency in children: a case report

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.

Insuficiencia renal aguda secundaria como manifestación inicial de favismo en un adulto mayor: Caso clínico / Favism presenting as an acute renal failure: Report of one case

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.

Study of G-6-PD Deficiency of Blood Donors in Suining Region, Sichuan Province and Influence of Being Transfused with Blood from Donors Eating Broad Beans on Children with Favism / 中国输血杂志

A study of G-6-PD state in red cells of 2483 blood donors was performed using the improved blue tetrazolium method ,indicating that 8.3% of the donors studied were in G-6-PD deficiency and 2. 1% of the donors studied were in severe G-6-PD deficiency. The files of blood donor G-6-PD state were established to prevent the children with favism from being transfused with G-6-PD deficient blood, thereby the safety of blood transfusion could be enhanced. The impact of being transfused with the blood extracted from the donors at different time (2~4 hr. 12-24hr. and 2-3 days )after eating broad beans on the children with favism was observed. There was no obvious difference in the improvement of clinical symptoms,restoration of hemoglobin in peripheral blood and change of G-6-PD activity between the tested and control groups. There were no found the cases of rehemolytic reaction in either group,indicating that being transfused with the blood from donors eating the broad beans had no evident adverse influence on the children with favism during the "refractory period" following the acute hemolysis.

Studies on the pathogenesis of favism: Ⅷ. The condition for releasing hemolytic substance in fava bean (Vicia faba) in vitro / 中国病理生理杂志

The authors had reported that when the extracts from dry, cooked or deep-fried faVa beans were incubated at 37℃ for 12-24 hours, a "toxic substance" with potentially strong effect of destroying glutatbione (GSH) of RBC could be found there in. In this experiment, we observed that when the boiled extract of fava bean was incubated at 37℃ with eitter trypsin or chymotrypsin for even shorter period of time, only one hour, a moderatel strong effect of destroying GSH could be found. Moreover, a range of pH value (pH 5.5-7.5) is also suitable for the production. The effect of this "toxic substance" destroying GSH could be found when the fava bean extracts was incubated at 37℃ without any enzymes. It is proposed that the gastrointestinal tract of humen body may bc the place where the toxic substance is released from fava beans,