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新生儿间接胆红素血症中的葡萄糖-6-磷酸脱氢酶缺乏症

Glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia.

作者信息

Atay Enver, Bozaykut Abdulkadir, Ipek Ilke Ozahi

机构信息

Zeynep Kamil Maternity and Children's Research Hospital, Istanbul, Turkey.

出版信息

J Trop Pediatr. 2006 Feb;52(1):56-8. doi: 10.1093/tropej/fmi042. Epub 2005 May 25.

Abstract

The aim of this article is to investigate the prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonatal hyperbilirubinemia and to compare the clinical presentation and course of G6PD-deficient and normal patients. This study included a total of 624 term neonates with indirect hyperbilirubinemia from March 2001 to September 2004. Birth weight, sex, weight at admission, serum bilirubin at admission, maximum bilirubin, phototherapy duration, duration of hospitalization and the need for exchange transfusion were recorded. Laboratory evaluations included blood group typing of mother and newborn, complete blood count, peripheral blood smear, serum total and direct bilirubin, direct coombs test, reticulocyte count, serum-free T4 and TSH, urine analysis, urinary reducing substance and erythrocyte G6PD level. The analysis of the results indicated that 24 neonates with indirect hyperbilirubinemia were G6PD-deficient. No statistically significant difference was detected between G6PD-deficient and normal groups in relation to the time of onset of jaundice, reticulocyte count, hematocrit level, phototherapy duration and duration of hospitalization. Serum bilirubin at admission, maximum serum bilirubin level and the need for exchange transfusion were higher in G6PD-deficient group. From this study our conclusion is that the G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemia which may result in kernicterus. Early neonatal screening programmes should be instituted in countries where the deficiency is prevalent.

摘要

本文旨在调查葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在新生儿高胆红素血症中的患病率,并比较G6PD缺乏症患儿与正常患儿的临床表现及病程。本研究纳入了2001年3月至2004年9月期间共624例足月间接高胆红素血症新生儿。记录了出生体重、性别、入院体重、入院时血清胆红素、最高胆红素、光疗时间、住院时间及换血需求。实验室评估包括母婴血型鉴定、全血细胞计数、外周血涂片、血清总胆红素和直接胆红素、直接抗人球蛋白试验、网织红细胞计数、血清游离T4和促甲状腺激素、尿液分析、尿还原物质及红细胞G6PD水平。结果分析表明,24例间接高胆红素血症新生儿存在G6PD缺乏症。G6PD缺乏症组与正常组在黄疸出现时间、网织红细胞计数、血细胞比容水平、光疗时间及住院时间方面未检测到统计学显著差异。G6PD缺乏症组的入院血清胆红素、最高血清胆红素水平及换血需求更高。从本研究得出的结论是,G6PD缺乏症是一种常见的酶缺陷,可导致严重的间接高胆红素血症,进而可能导致核黄疸。在该缺乏症流行的国家应开展早期新生儿筛查项目。

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