Benchimol Marcos, Madeira Laura Bernardo, de Oliveira-Souza Ricardo
Hospital Universitário Clementino Fraga Filho (UFRJ), Rio de Janeiro, Brazil.
The D'Or Institute for Research & Education (IDOR), Rio de Janeiro, Brazil.
Case Rep Crit Care. 2018 Sep 25;2018:8198565. doi: 10.1155/2018/8198565. eCollection 2018.
Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed symptoms of G6PD deficiency immediately after he received methylene blue for treating methemoglobinemia. The contrast between a low SO on pulse oximetry and a normal arterial gas sampling raised the possibility of methemoglobinemia. The patient was treated with packed red blood cells and folic acid, and a rapid clinical improvement followed by normalization of the red blood cell count ensued. In view of the patient's advanced age, the lack of a history of similar episodes in the past, and the normal laboratory results during the hemolytic crisis, this case remained a diagnostic challenge for over three months, when a follow-up measure of G6DP activity eventually confirmed the diagnosis. A latent deficiency of G6PD may become clinically manifest under the appropriate triggering conditions even in elderly patients and in the absence of past or current clinical and laboratory evidence of G6PD deficiency.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是人类最常见的酶缺乏症,根据具体的基因变异情况,可能有广泛的临床表现。在此,我们报告一例86岁非洲裔男性病例,该患者在接受亚甲蓝治疗高铁血红蛋白血症后,急性出现G6PD缺乏症症状。脉搏血氧饱和度低与动脉血气采样正常之间的差异增加了高铁血红蛋白血症的可能性。该患者接受了浓缩红细胞和叶酸治疗,随后临床迅速改善,红细胞计数恢复正常。鉴于患者年龄较大,既往无类似发作史,且溶血危机期间实验室检查结果正常,该病例在三个多月的时间里一直是诊断难题,直到后续检测G6DP活性最终确诊。即使在老年患者中,且既往或当前均无G6PD缺乏症的临床和实验室证据,潜在的G6PD缺乏症在适当的触发条件下也可能表现出临床症状。