Research advances in maturity-onset diabetes of the young
耿荟云 1汪治华2
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作者信息
1. 西安医学院,陕西 西安 710021
2. 西安交通大学附属儿童医院内分泌遗传代谢科,陕西 西安 710003
折叠
摘要
青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)是一类特殊类型糖尿病,临床特征包括糖尿病发病年龄早(30岁以前)、常染色体显性遗传、葡萄糖诱导的胰岛素分泌受损和高血糖.迄今已报道有14种MODY类型,占糖尿病患者人数的1%～5%.MODY发病常常较为隐匿,尽管已经确定了14种亚型,但由于临床特征的重叠、基因检测的高成本和有限性,MODY经常被误诊为1型或2型糖尿病.该综述的主要目的是研究MODY亚型的临床特征,以提高MODY诊疗的准确率.
Abstract
Maturity-onset diabetes of the young(MODY)is a special type of diabetes characterized by clinical features including early onset of diabetes(before 30 years of age),autosomal dominant inheritance,impaired glucose-induced insulin secretion,and hyperglycemia.So far,14 types of MODY have been reported,accounting for about 1%-5%of the patients with diabetes.MODY often presents with an insidious onset,and although 14 subtypes have been identified for MODY,it is frequently misdiagnosed as type 1 or type 2 diabetes due to overlapping clinical features and high costs and limitations of genetic testing.This article reviews the clinical features of MODY subtypes in order to improve the accuracy of the diagnosis and treatment of MODY.
关键词
青少年起病的成人型糖尿病/基因突变/临床表现/治疗
Key words
Maturity-onset diabetes of the young/Gene mutation/Clinical manifestation/Treatment
维普
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