葡萄糖6磷酸酶缺乏症合并糖尿病患者的临床及分子遗传学研究

Study of clinical feature and molecular genetics in patients with G6PD deficiency and diabetes

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 explore the clinical feature and molecular genetics in patients with glucose- 6-phosphate dehydrogenase（G6PD） deficiency and diabetes. Methods One T2DM patient with G6PD from the Peking Union Medical College Hospital and 13 such patients from MEDLINE or national core periodical were selected. G6PD gene was detected using the PCR-sanger sequencing. G6PD activity were tested by G6PD/6PGD ratio. Clinical feature and glycometabolism indicators of 14 patients were analyzed. Results There was a missense variant （c. 95A〉G,p. His32Arg） in exon 2 of G6PD gene,and the G6PD activity decreased 30% as compared with the lower limit of normal value in case 1. The average glucose value of all 14 cases calculated by HbAlc was lower than that calculated by glycated albumin [-（7. 95± 0.76） vs （9.90：k0. 59） mmol/L,P〈0. 01]. The sulfonylureas could induce hemolysis in the patient with G6PD deficiency. Conclusion The HbAlc value, which can be falsely lower than the actual values because of hemolysis, is not a suitable index to evaluate the glucose metabolism status in patients with G6PD deficiency. The sulfonylureas ought to be inadvisable in patients with G6PD deficiency.