妊娠期葡萄糖激酶基因突变导致的青少年发病的成人型糖尿病研究进展

Recent progress in glucokinase-maturity-onset diabetes of the young in pregnancy

青少年发病的成人型糖尿病(MODY)是呈常染色体显性遗传的一种特殊类型糖尿病,因其表型与1型糖尿病和2型糖尿病相重叠,故常被误诊。其中,最常见的类型之一是MODY2,它是由葡萄糖激酶(GCK)基因突变引起的,因此被称为GCK-MODY。GCK-MODY患者的微血管和大血管并发症较少见,故普遍认为在非妊娠期不需要治疗。虽然针对GCK-MODY的诊疗策略已逐渐建立,但GCK-MODY患者孕期血糖的控制及胎儿的突变状态可能会影响妊娠结局,因此妊娠期GCK-MODY的治疗管理十分重要,值得探索。

Maturity-onset diabetes of the young(MODY)is a cluster of monogenic diabetes classified in specific types of diabetes,inherited in an autosomal dominant manner.MODY is often underdiagnosed or misdiagnosed with type 1 or type 2 diabetes.MODY2,also known as GCK-MODY,is caused by disease-causing mutations in glucokinase,which usually characterized by mild hyperglycemia,low risks for macrovascular and microvascular complications,thus barely treated or even not recommended for treatment in females outside of pregnancy.However,many more considerations should be taken regarding GCK-MODY in pregnancy.Different combinations of genotype in GCK of both moms and infants make it even complex when reaching ideal blood glucose control and normal infant development.Therefore,the treatment and management of GCK-MODY in pregnancy is very important and worth exploring.