[1]中华医学会内分泌学分会内分泌罕见病学组.葡萄糖激酶基因突变导致的单基因糖尿病诊治专家共识[J].国际内分泌代谢杂志,2022,42(03):236-244.[doi:10.3760/cma.j.cn121383-20220107-01010]
 Study Group of Endocrinology Rare Diseases,Chinese Society of Endocrinology.Diagnosis and management of monogenic diabetes caused by glucokinase gene mutations[J].International Journal of Endocrinology and Metabolism,2022,42(03):236-244.[doi:10.3760/cma.j.cn121383-20220107-01010]
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葡萄糖激酶基因突变导致的单基因糖尿病诊治专家共识()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
42
期数:
2022年03期
页码:
236-244
栏目:
指南与共识
出版日期:
2022-05-20

文章信息/Info

Title:
Diagnosis and management of monogenic diabetes caused by glucokinase gene mutations
作者:
中华医学会内分泌学分会内分泌罕见病学组
Author(s):
Study Group of Endocrinology Rare Diseases Chinese Society of Endocrinology
关键词:
单基因糖尿病 特殊类型糖尿病 葡萄糖激酶 基因突变 专家共识
DOI:
10.3760/cma.j.cn121383-20220107-01010
摘要:
葡萄糖激酶基因(GCK)失活突变所致的葡萄糖激酶功能障碍导致的糖尿病是单基因糖尿病(MDM)的常见类型,即GCK-MDM,以往常称为青少年起病的成人型糖尿病(MODY)2型,简称MODY2或GCK-MODY。GCK-MDM的血糖谱、血脂谱、糖尿病相关慢性并发症风险与其他类型的糖尿病有所区别,因此其管理方案不同,此外,在生命周期的特定阶段(如妊娠期)需施行特殊的管理策略。由于临床医师和患者对GCK-MDM认识不足,导致误诊率、误治率较高。该专家共识基于国内外关于GCK-MDM的研究成果,对于其诊断、治疗、随访、并发症和合并症的评估及防治达成一致意见,提出相关建议。

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备注/Memo

备注/Memo:
本共识由《中华糖尿病杂志》和《国际内分泌代谢杂志》于2022年4月同步发表
通信作者:刘铭,天津医科大学总医院内分泌代谢科 300052,Email:mingliu@tmu.edu.cn; 赵家军,山东省立医院内分泌科,济南 250021,Email:jjzhao@sdu.edu.cn; 舒画,天津医科大学总医院内分泌代谢科 300052,Email:shuhua@tmu.edu.cn
更新日期/Last Update: 2022-05-10