PDF(Pubmed)
Abstract：
One of the most widespread enzymopathies affecting human beings is glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is brought on by inherited mutations in the X-linked gene. Red blood cells (RBCs) with a G6PD deficiency are more sensitive to oxidative assault and consequently to hemolysis. There are more than 200 known G6PD mutations, of which around half are polymorphic and thus prevalent in a variety of populations. We present a case of diabetic ketoacidosis (DKA), with severe hemolytic anemia and methemoglobinemia. The patient was admitted to the intensive care unit, treated for DKA, and received a blood transfusion. In addition, the patient presented with high methemoglobin levels and features of severe hemolytic anemia from the onset, which made the diagnostic consideration of G6PD highly likely. Accordingly, the patient was treated with several doses of ascorbic acid instead of methylene blue. In a nutshell, a patient with DKA who has hemolytic anemia has to have it properly evaluated and controlled. The link between methemoglobinemia, G6PD deficiency, and DKA should be recognized by medical professionals, particularly when oxygen saturation gaps are found.
摘要：
影响人类的最普遍的酶病之一是葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症，这是由X连锁基因的遗传突变引起的。具有G6PD缺乏的红细胞(RBC)对氧化攻击更敏感,因此对溶血更敏感。已知有200多个G6PD突变,其中大约一半是多态的，因此在各种种群中普遍存在。我们介绍了一例糖尿病酮症酸中毒（DKA），严重溶血性贫血和高铁血红蛋白血症。病人被送进了重症监护室,接受DKA治疗,接受了输血.此外,患者出现高高铁血红蛋白水平和严重溶血性贫血的特征，从一开始，这使得G6PD的诊断考虑很有可能。因此，患者接受了几种剂量的抗坏血酸代替亚甲蓝治疗。简而言之，患有溶血性贫血的DKA患者必须对其进行适当的评估和控制.高铁血红蛋白血症之间的联系,G6PD缺乏症，DKA应该得到医疗专业人士的认可，特别是当发现氧饱和度间隙时。
