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首页> 外文期刊>Pediatric neurology >Central Retinal Artery Occlusion in a 13-Year-Old Child as a Presenting Sign of Hyperhomocysteinemia Together With High Lipoprotein(a) Level
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Central Retinal Artery Occlusion in a 13-Year-Old Child as a Presenting Sign of Hyperhomocysteinemia Together With High Lipoprotein(a) Level

机译:13岁儿童视网膜中央动脉阻塞是高同型半胱氨酸血症和高脂蛋白(a)水平的表现

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BACKGROUND: We describe a child with central retinal artery occlusion and hyperhomocysteinemia. METHODS: A 13-year-old girl developed sudden vision loss and was hospitalized for diagnosis and treatment. RESULTS: Her physical examination was normal except for her ophthalmologic examination. Her serum homocysteine level and lipoprotein(a) were elevated to 45.27 mu mol/L and 61 mg/dL 0-29 mg/dL, respectively. A homozygous mutation was identified for methylenetetrahydrofolate reductase at position C677T. CONCLUSION: This report documents central retinal artery occlusion associated with the risk factors of hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677 T mutation and high lipoprotein(a) level in a child. Retinal artery occlusion is rare in children. This patient emphasizes the need for a systemic evaluation for hyperhomocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology. (C) 2013 Elsevier Inc. All rights reserved.
机译:背景:我们描述了一个视网膜中央动脉阻塞和高同型半胱氨酸血症的儿童。方法:一名13岁女孩突然视力下降,并住院进行诊断和治疗。结果:除了眼科检查外,她的身体检查正常。她的血清高半胱氨酸水平和脂蛋白(a)分别升高到45.27μmol/ L和61 mg / dL 0-29 mg / dL。在位置C677T处发现了亚甲基四氢叶酸还原酶的纯合突变。结论:本报告记录了儿童视网膜中央动脉阻塞与亚甲基四氢叶酸还原酶C677 T突变和高脂蛋白(a)水平引起高同型半胱氨酸血症的危险因素。视网膜动脉阻塞在儿童中很少见。该患者强调需要对病因不明的视网膜血管闭塞患儿进行高同型半胱氨酸血症和脂蛋白(a)水平的系统评价。 (C)2013 Elsevier Inc.保留所有权利。

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