HNF1A 基因突变在青少年发病 MODY3 型糖尿病家系中的临床意义及治疗策略探究
摘要
治疗的影响。方法：对先证者及其家系成员进行详细的临床评估和基因测序。对 HNF1A 基因上的 c.391C>T(p.Arg131Trp)
变异进行功能分析，并根据临床特征和治疗响应进行表型 - 基因型关联研究。结果：先证者携带 HNF1A 基因的致病性
c.391C>T(p.Arg131Trp) 杂合突变，临床表现为早发型糖尿病，经瑞格列奈治疗后血糖控制良好。家系分析显示该突变与糖
尿病的发病机制密切相关。结论：HNF1A 基因突变是 MODY3 的致病因素，基因检测对于精准诊断和个体化治疗至关重要。
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