WFS1相关糖尿病遗传和临床特征的Meta分析  

Meta analysis of genetic and clinical characteristics of WFS1 related diabetes mellitus

作　　者：李亚婷 韩学尧[1] 纪立农[1] LI Yating;HAN Xueyao;JI Linong(Department of Endocrinology,Peking University People’s Hospital,Beijing 100044,China)

机构地区：[1]北京大学人民医院内分泌科,100044

出　　处：《中国糖尿病杂志》2022年第3期165-173,共9页Chinese Journal of Diabetes

基　　金：北京市科委资助项目(Z201100005520012)。

摘　　要：目的综合分析WFS1相关DM(WFS1-DM)遗传和临床特征,提高该型DM诊断率。方法数据库检索文献,根据标准筛选文献、提取资料并分析。结果纳入91篇文献共607例WFS1-DM患者,其中95%的患者25岁前发病,47.5%的患者父母为近亲结婚,WFS1-DM并发DKA风险低于T1DM。不同基因型发病年龄有差异。综合征型DM(sDM)患者较非综合征型DM(nsDM)发病早,显性遗传比例低,父母近亲结婚比例高。结论 WFS1-DM发病早,较T1DM不易发生DKA,基因型影响发病年龄。nsDM较sDM更易误诊为其他类型DM。Objective To comprehensively analyze the genetic and clinical characteristics of WFS1 related diabetes mellitus (WFS1-DM),and to improve the diagnosis rate of this type of DM.Methods We searched and collected papers on WFS1-DM from PubMed,China national knowledge infrastructure and Wanfang databases. The patients were divided into non-syndromic diabetes mellitus(nsDM)and syndromic diabetes mellitus (sDM)presented at least one of the following characteristics such as optic atrophy,diabetes insipidus or deafness.Results 607 cases of WFS1-DM from 91 literature were included in the analysis.Most patients are younger than 25 years old at diagnosis and require insulin therapy,47. 5% of the patients’ parents were consanguineous. Meta-analysis showed that patients with WFS1-DM had a lower risk of ketoacidosis than T1 DM. The age of WFS1-DM onset varied among different genotypes. Compared with ns DM,patients with sDM had the characteristics of earlier onset,lower proportion of dominant inheritance,and higher proportion of consanguineous parents.Conclusion WFS1-DM had an early onset and was less prone to diabetic ketoacidosis than T1 DM. The genotype affected the age of onset. nsDM was more likely to be misdiagnosed as other types of DM than sDM.

关 键 词：WFS1基因 WOLFRAM综合征 糖尿病 

分 类 号：R587.1[医药卫生—内分泌]