1型糖尿病引起的葡萄糖6磷酸脱氢酶缺乏导致的溶血性贫血

IF 1.5 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2022-03-21 DOI:10.4274/jcrpe.galenos.2022.2021-11-10
Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve
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引用次数: 1

摘要

葡萄糖6磷酸脱氢酶(G6PD)在所有组织中表达,是维持细胞氧化应激能力所必需的。G6PD缺乏症是人类最常见的酶病,也是导致溶血性贫血的重要原因之一。据报道,在新诊断的糖尿病中,特别是在纠正高血糖期间,可能会发生由G6PD缺乏引起的严重溶血性贫血。迄今为止,已发表了9例病例。在这些已发表的患者中,没有对G6PD缺乏症进行遗传分析。我们报告一例因G6PD缺乏而继发于新诊断的1型糖尿病的溶血性贫血。对该患者进行了基因检测,发现了先前报告的错义致病变异(c.653C>T;p.Ser218Phe)在G6PD基因中。
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Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus

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 G6PD gene.

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来源期刊
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-PEDIATRICS
CiteScore
3.60
自引率
5.30%
发文量
73
审稿时长
20 weeks
期刊介绍: The Journal of Clinical Research in Pediatric Endocrinology (JCRPE) publishes original research articles, reviews, short communications, letters, case reports and other special features related to the field of pediatric endocrinology. JCRPE is published in English by the Turkish Pediatric Endocrinology and Diabetes Society quarterly (March, June, September, December). The target audience is physicians, researchers and other healthcare professionals in all areas of pediatric endocrinology.
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