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目的:探讨线粒体tRNALeu(UUR)3243A→G突变所致糖尿病的临床特征及治疗原则。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对338例随机抽样无亲缘关系的糖尿病患者和132名正常人进行线粒体tRNALeu(UUR)3243A→G突变的检测,并对阳性患者进行临床分析。结果:糖尿病组共检测出6个先证者(1.8%),并在这些家系中共发现13例该突变的糖尿病患者。大部分患者为消瘦体型,10例伴有神经性耳聋,除1例外其他均需用胰岛素治疗。另外,在同一家系中,子代的糖尿病发病年龄明显低于母辈的发病年龄。结论:线粒体tRNALeu(UUR)3243A→G突变所致糖尿病是胰岛β细胞功能缺陷型糖尿病,因此对携带此突变基因者应进行随访,已确诊的患者在可能的条件下应尽早用胰岛素治疗。
Objective: To investigate the clinical features and treatment of diabetes caused by mitochondrial tRNALeu (UUR) 3243A → G mutation. Methods: A total of 338 randomly selected unrelated patients with diabetes and 132 normal controls were enrolled in this study. The mitochondrial tRNALeu (UUR) 3243A → G mutation was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Positive patients for clinical analysis. RESULTS: Six probands (1.8%) were detected in the diabetic group and 13 of the mutated diabetic patients were found in these families. Most patients were emaciated, 10 patients with neurological deafness, except for 1 exception were treated with insulin. In addition, in the same pedigree, the onset age of diabetes in offspring was significantly lower than that of the mother. CONCLUSIONS: Mitochondrial tRNALeu (UUR) 3243A → G mutation-induced diabetes mellitus is pancreatic beta-cell dysfunction and therefore should be followed up for patients carrying this mutation. Patients who have been diagnosed should be treated with insulin as soon as possible, if possible.