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作者

陈昕雨 徐 潮

作者单位

山东大学齐鲁医学院，山东 济南 山东第一医科大学附属省立医院内分泌代谢病科，山东 济南

刊名

Advances in Clinical Medicine

年份

2024

卷号

Vol.14 No.7

页码

1386-1396

ISSN

2161-8712

关键词

青年人中的成年发病型糖尿病 青年人中的成年发病型糖尿病9型 成对盒4基因 MODY MODY9 PAX4

摘要

Maturity onset diabetes of the young 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 , which is essential for islet β-cell differentiation during pancreatic development and for...更多

Maturity onset diabetes of the young 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 , 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.收起

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