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目的探讨葡萄糖6磷酸酶(G6PD)缺乏症合并糖尿病患者的临床及分子遗传学特征。方法纳入我院收治的1例及文献报道的13例G6PD缺乏症合并糖尿病患者。采用PCR-sanger测序法对例1行G6PD基因检测,采用酶活性直接比值法检测G6PD酶活性。回顾性分析14例患者临床特点及糖代谢评价指标。结果例1 G6PD基因检测结果为c.95A>G(p.His32Arg),G6PD酶活性为0.8,较正常下限下降30%;14例患者根据HbA_1c计算的平均血糖值(AG)为(7.95±0.76)mmol/L,低于根据糖化白蛋白(GA)计算的AG值(9.90±0.59)mmol/L(P<0.01);磺脲类药物可引起急性或慢性溶血。结论 G6PD缺乏症患者HbA_1c与实际血糖值不符,临床上需慎用HbA_1c来评价其糖代谢状态;G6PD缺乏症患者不宜使用磺脲类降糖药。
Objective To investigate the clinical and molecular genetic characteristics of patients with glucose 6-phosphatase (G6PD) deficiency complicated with diabetes mellitus. Methods One patient admitted to our hospital and 13 cases of G6PD deficiency with diabetes reported in the literature. The G6PD gene was detected by PCR-sanger sequencing in Example 1, and the G6PD activity was detected by the direct ratio of enzyme activity. Retrospective analysis of 14 patients with clinical features and glucose metabolism indicators. Results Example 1 The test result of G6PD gene was c.95A> G (p.His32Arg), and the activity of G6PD was 0.8, which was 30% lower than the normal lower limit. The average blood glucose (AG) of 14 patients based on HbA_1c was (7.95 ± 0.76 ) mmol / L, which was lower than AG (9.90 ± 0.59) mmol / L based on GA (P <0.01); sulfonylureas could cause acute or chronic hemolysis. Conclusions HbA 1c in patients with G6PD deficiency does not match the actual blood glucose level, so HbA_1c should be used with caution in clinical evaluation of glucose metabolism status. Sulfonylurea hypoglycemic agents should not be used in patients with G6PD deficiency.