Anemia por déficit de glucosa-6-fosfato deshidrogenasa. Reporte de caso y revisión de la literatura
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Date
2024
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Abstract
Introducción: El déficit de glucosa-6-fosfato deshidrogenasa (G6PD) es la anomalía enzimática más frecuente en los humanos. Es una condición genética hereditaria que puede ocasionar complicaciones durante el embarazo, en el periodo posnatal y a lo largo de la vida. Objetivo: Describir el caso de una familia afectada por un déficit de G6PD, sin conocimiento previo al embarazo, en la que se realiza el diagnóstico por complicaciones de los infantes. Método: La información clínica se obtuvo a través de una entrevista y de la ficha clínica de la madre, y la búsqueda bibliográfica de la patología se realizó en las bases de datos Scielo, PubMed y Google Scholar. Conclusiones: En la mayoría de los casos, el déficit de G6PD puede ser asintomático, pero en ocasiones pueden presentarse síntomas o condiciones graves tanto en la madre como en el feto, el recién nacido, el infante o el adulto. Por ende, la detección temprana, la educación sobre los factores desencadenantes y la recomendación sobre medidas preventivas terminan siendo esenciales para minimizar el riesgo de presentar complicaciones o secuelas graves a futuro
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic abnormality among humans. It is a hereditary genetic condition that during pregnancy, postnatal period and during life. Objective: To describe the case of a family affected by G6PD deficiency, with no prior knowledge before pregnancy, in which the diagnosis was made due to complications in the infants. Method: Clinical information was obtained through an interview and the mother’s medical records, and a literature search on the pathology was performed in the Scielo, PubMed and Google Scholar databases. Conclusions: In most cases, G6PD deficiency is asymptomatic, however, occasionally severe symptoms or conditions can be seen both in the mother and the offspring, newborn, infant or adult. Therefore, the early detection, the education on triggering factors, and the recommendation on preventive measures become central to minimize the manifestation risk of severe complications or squeals in the future.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic abnormality among humans. It is a hereditary genetic condition that during pregnancy, postnatal period and during life. Objective: To describe the case of a family affected by G6PD deficiency, with no prior knowledge before pregnancy, in which the diagnosis was made due to complications in the infants. Method: Clinical information was obtained through an interview and the mother’s medical records, and a literature search on the pathology was performed in the Scielo, PubMed and Google Scholar databases. Conclusions: In most cases, G6PD deficiency is asymptomatic, however, occasionally severe symptoms or conditions can be seen both in the mother and the offspring, newborn, infant or adult. Therefore, the early detection, the education on triggering factors, and the recommendation on preventive measures become central to minimize the manifestation risk of severe complications or squeals in the future.
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Keywords
Déficit de glucosa-6-fosfato deshidrogenasa, Anemia hemolítica, Favismo, Glucose-6-phosphate dehydrogenase deficiency, Hemolytic anemia, Favism