Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Hematology, Ankara, Turkey
J Clin Res Pediatr Endocrinol. 2023 Nov 22;15(4):417-420. doi: 10.4274/jcrpe.galenos.2022.2021-11-10. Epub 2022 Mar 21.
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, nine cases have been published. Genetic analysis was not performed for G6PD deficiency in these published patients. We present a case of hemolytic anemia due to G6PD deficiency secondary to newly diagnosed type 1 diabetes mellitus. Genetic testing was performed for the index patient and revealed a previously reported missense pathogenic variant (c.653C>T; p.Ser218Phe) in the gene.
葡萄糖-6-磷酸脱氢酶（G6PD）在所有组织中均有表达，对于维持细胞的氧化应激能力是必需的。G6PD 缺乏是人类最常见的酶病，也是溶血性贫血的重要原因之一。据报道，新诊断的糖尿病，尤其是高血糖纠正期间，可能会发生 G6PD 缺乏引起的严重溶血性贫血。迄今为止，已发表了 9 例此类病例。对于这些已发表的患者，G6PD 缺乏症并未进行基因分析。我们报告了 1 例新诊断的 1 型糖尿病继发 G6PD 缺乏症导致的溶血性贫血。对该患者进行了基因检测，发现了 基因中先前报道的错义致病性变异（c.653C>T;p.Ser218Phe）。
