青少年起病的成人型糖尿病的临床及基因特征

Clinical and Gene Features of Maturity-onset Diabetes of the Young

青少年起病的成人型糖尿病(MODY)是呈常染色体显性遗传的一种特殊类型糖尿病。MODY的流行率和特征在一些人群已经做了详细的研究,然而在中国需要更多的研究。在临床上,因其表型与1型糖尿病和2型糖尿病相重叠常常被误诊。建议对有家族史的、无代谢综合征和1型糖尿病特征的年轻患者行基因检测。正确的分子诊断对MODY患者治疗方案的合理选择、预后判断及家系成员的风险评估均具有重要意义。二代测序的出现使临床的诊断更加方便,同时希望用来发现其他突变类型。

Maturity-onset diabetes of the young（MODY） is a special type of diatetes mellitus characterized by autosomal dominant inheritance. MODY prevalence and characteristics have been well-studied in some populations, and much more study is needed in China. In clinical, because of its phenotype overlappoing with type 1 diabetes and type 2 diabetes, it is often misdiagnosed. Genetic screening is recommended in all young patients with an autosomal dominant family history of diabetes and who lack features of the metabolic syndrome and type 1 diabetes. A correct molecular diagnosis and differentiating MODY from type 1 diabetes or type 2 diabetes are important for decision on a patient＇s treatment and determining the prognosis, as well as detecting the risk of the family members. Emerging next-generation sequencing methods are making clinical diagnosis more feasible, which are also expected to detect other mutations.