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葡萄糖-6-磷酸脱氢酶(G6PD)缺乏所致的急性溶血性贫血和肌溶解

Acute haemolytic anaemia and myolysis due to G6PD deficiency.

作者信息

Mangat Chetna, Inoue Susumu, Saah Elna, Sharman Mahesh

机构信息

Department of Pediatrics, Hurley Children's Hospital, Flint, Michigan, USA.

Department of Pediatrics, Hurley Medical Center, Flint, Michigan, USA.

出版信息

BMJ Case Rep. 2014 Sep 18;2014:bcr2014203631. doi: 10.1136/bcr-2014-203631.

DOI:10.1136/bcr-2014-203631
PMID:25234071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4170498/
Abstract

A 2-year-old African-American male patient with sickle cell trait developed cough, red coloured urine, pallor and fatigue. The patient was hospitalised. Diagnostic workup showed that he was glucose 6 phosphate dehydrogenase (G6PD) deficient in erythrocytes. He also had chest X-ray findings of pneumonia. His urine examination showed the presence of haemoglobin and myoglobin. On repeated questioning it was found that he had a moth ball in his mouth a few days prior to this medical episode. This case illustrates a rarely described complication of myolysis in G6PD deficient persons on exposure to a strong oxidant. A review of the literature showed that most people with G6PD deficiency tolerate exercise well without untoward effect in muscles. However, assay of myoglobin in urine has not been routinely performed in these patients during acute haemolytic episode, and thus it is uncertain how frequent myoglobulinaemia occurs in a similar stress situation.

摘要

一名患有镰状细胞性状的2岁非裔美国男性患者出现咳嗽、红色尿液、面色苍白和疲劳。该患者住院治疗。诊断检查显示他的红细胞中缺乏葡萄糖6磷酸脱氢酶(G6PD)。他的胸部X光检查结果显示有肺炎。他的尿液检查显示存在血红蛋白和肌红蛋白。在反复询问后发现,在此次发病前几天他嘴里含过樟脑丸。该病例说明了G6PD缺乏者在接触强氧化剂后发生的一种罕见的肌溶解并发症。文献回顾表明,大多数G6PD缺乏者能很好地耐受运动,肌肉不会出现不良影响。然而,在这些患者急性溶血发作期间,尚未常规检测尿液中的肌红蛋白,因此不确定在类似应激情况下肌红蛋白血症的发生频率有多高。

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