青年人中的成年发病型糖尿病9型诊疗研究进展

Research Progress on the Diagnosis and Treatment of Maturity Onset Diabetes of the Young 9

摘要: 青年人中的成年发病型糖尿病(maturity onset diabetes of the young, MODY)是一组罕见的单基因糖尿病，具有发病年龄小、常染色体显性遗传模式的糖尿病家族史和胰岛素非依赖性等典型特征。基因检测对于MODY亚型的诊断至关重要。MODY9是由PAX4基因突变引起的MODY亚型。PAX4基因编码成对盒4蛋白(Paired box 4, PAX4)，在胰腺发育过程中对胰岛β细胞的分化和在胰腺成熟后对胰岛β细胞的存活和增殖至关重要。PAX4突变导致胰岛β细胞功能障碍。目前已发现PAX4多个突变位点，这些突变可导致不同的临床表型。除了典型的MODY临床表现外，MODY9还表现出酮症或酮症酸中毒倾向。MODY9可以通过饮食控制、口服降糖药或胰岛素进行治疗。本综述对MODY9在病因、临床表现、诊断、治疗等方面的研究进展进行总结。同时对PAX4与糖尿病相关的变异位点汇总，探讨PAX4基因突变与糖尿病的关系。

Abstract: Maturity onset diabetes of the young (MODY) is a rare group of monogenic diabetes mellitus with typical features such as young age of onset, family history of diabetes in an autosomal dominant pattern of inheritance, and insulin non-dependence. Genetic testing is essential for the diagnosis of MODY subtypes. MODY9 is a MODY subtype caused by mutations in the PAX4 gene. PAX4 gene encodes the paired box 4 protein (PAX4), which is essential for islet β-cell differentiation during pancreatic development and for survival and proliferation after maturation. Mutations in PAX4 cause β-cell dysfunction. Multiple mutation sites in PAX4 have been identified, and these mutations can lead to different clinical phenotypes. In addition to the typical clinical manifestations of MODY, MODY9 exhibits a tendency toward ketosis or ketoacidosis. MODY9 can be treated by dietary control, oral hypoglycemic agents or insulin. This review summarizes the research progress of MODY9 in terms of etiology, clinical manifestations, diagnosis, and treatment. It also summarizes the mutation loci of PAX4 associated with diabetes and discusses the relationship between PAX4 gene mutation and diabetes.