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双侧白内障与葡萄糖-6-磷酸脱氢酶缺乏症相关。

Bilateral cataracts associated with glucose-6-phosphate dehydrogenase deficiency.

机构信息

Faculty of Medicine, Department of Pediatrics, Division of Neonatology, University of Calgary, Calgary, AB, Canada.

出版信息

J Perinatol. 2013 Jul;33(7):574-5. doi: 10.1038/jp.2012.148.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) has an essential role in the defense against cellular oxidative injury. In neonates, the most common manifestation of G6PD deficiency is jaundice and hemolysis due to factors causing oxidative stress. Less known are the ocular associations described with G6PD deficiency, including cataracts. Oxidative injury is involved in the pathogenesis of almost all forms of cataracts, causing the lens proteins to undergo modifications, denaturation and form insoluble aggregates resulting in cataracts. Although cataracts in adult males have been reported in several studies, there are few reports of cataracts in infants with G6PD deficiency. We describe a preterm male neonate with G6PD deficiency who developed bilateral cataracts following an episode of neonatal sepsis and severe hemolysis necessitating an exchange blood transfusion.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)在抵抗细胞氧化损伤方面起着重要作用。在新生儿中,G6PD 缺乏症最常见的表现是由于引起氧化应激的因素导致的黄疸和溶血。不太为人知的是与 G6PD 缺乏症相关的眼部疾病,包括白内障。氧化损伤参与了几乎所有类型白内障的发病机制,导致晶状体蛋白发生修饰、变性,并形成不溶性聚集体,从而导致白内障。尽管已有几项研究报道了成年男性白内障,但 G6PD 缺乏症婴儿白内障的报道很少。我们描述了一例 G6PD 缺乏症的早产儿男性新生儿,在发生新生儿败血症和严重溶血后,需要进行换血治疗,随后出现双侧白内障。

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