A 2-year-old boy with Glucose-6-Phosphate Dehydrogenase Deficiency Following Naphthalene Ingestion: a Case Report

Ruhul A, Rashedul H, Shamima SS, Tanjia M
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Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder in the world and more than 400 million people have a deficiency in this enzyme. G6PD deficiency is an X-linked disorder, and one of its important signs is the presence of hemolytic anemia. It is a worldwide important cause of neonatal jaundice and causes life threatening hemolytic crisis in childhood. Here a 2- year- old boy was admitted into department of pediatrics of Sylhet Women’s Medical College Hospital with fever for 2 days & passage of dark color urine for 1 day. There was history of accidental naphthalene ingestion present prior to develop symptoms. The boy was clinically febrile, severely pale, anicteric. No organomegaly was present. It was confirmed by G6PD level assay. Symptomatic & supportive treatment was given with packed cell volume transfusion and avoidance of triggering factors was advised. Genetic counseling was also done.
2岁男童摄入萘后出现葡萄糖-6-磷酸脱氢酶缺乏症1例
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是世界上最常见的遗传性酶疾病,超过4亿人缺乏这种酶。G6PD缺乏症是一种x连锁疾病,其重要标志之一是存在溶血性贫血。它是世界范围内新生儿黄疸的重要病因,可导致危及生命的儿童溶血性危象。这里有一名2岁男童,因发烧2天及尿色深1天而入住锡尔赫特女子医学院附属医院儿科。在出现症状之前,有意外摄入萘的病史。该男孩临床表现为发热、严重苍白、无黄疸。未见器官肿大。G6PD水平测定证实。给予对症支持治疗,充注细胞容量输注,避免触发因素。遗传咨询也做了。
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