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大多数单基因糖尿病的异常基因是β细胞基因(导致β细胞功能异常而不是胰岛素抵抗),同时单基因糖尿病致病基因的确定也导致某些临床亚型的发现。青年发病成年型糖尿病(MODY)是常染色体显性遗传、非胰岛素依赖的早发型糖尿病,除了MODY,对其他类型的单基因糖尿病的研究也有了一定的进展。在此,我们根据一位在成年早期当作1型糖尿病长期治疗的女性资料,谈谈单基因突变糖尿病应如何识别。
Most abnormal genes of monogenic diabetes are β-cell genes (resulting in abnormal beta-cell function rather than insulin resistance), and the identification of genes responsible for monogenic diabetes also leads to the discovery of certain clinical subtypes. Adult onset type 2 diabetes (MODY) is an autosomal dominant, non-insulin-dependent, premature type of diabetes. In addition to MODY, there have also been some advances in the study of other types of monogenic diabetes. Here, we talk about how to recognize single-gene mutation diabetes based on the data of a woman who is treated as a long-term treatment for type 1 diabetes in early adulthood.