Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, Colorado 80045-6511, USA.
Curr Opin Endocrinol Diabetes Obes. 2011 Aug;18(4):252-8. doi: 10.1097/MED.0b013e3283488275.
The goal of this review is to provide an update on the different forms of monogenic diabetes, including maturity-onset diabetes of the young (MODY) and neonatal diabetes (permanent and transient neonatal diabetes).
Monogenic diabetes accounts for approximately 1-2% of diabetes cases and results from mutations that primarily reduce β-cell function. Individuals with islet autoantibody negative youth-onset forms of diabetes should be evaluated for either glucokinase-MODY or transcription factors MODY. The mild-fasting hyperglycemia found in glucokinase-MODY typically does not necessitate pharmacological treatment, whereas patients with MODY caused by transcription factor mutations can often be successfully treated with low-dose sulfonylurea. Neonatal diabetes is defined as diabetes onset within the first 6 months of life and most individuals with permanent neonatal diabetes can be treated with high-dose sulfonylurea.
The discovery of the genetic cause of monogenic diabetes has greatly advanced our understanding and management of these uncommon forms of diabetes.
本综述旨在介绍不同形式的单基因糖尿病，包括青少年发病的成年型糖尿病（MODY）和新生儿糖尿病（永久性和暂时性新生儿糖尿病）。
单基因糖尿病约占糖尿病病例的 1-2%，由主要降低β细胞功能的基因突变引起。自身抗体阴性的青少年起病的糖尿病患者应评估是否为葡萄糖激酶-MODY 或转录因子 MODY。葡萄糖激酶-MODY 中发现的轻度空腹高血糖通常不需要药物治疗，而由转录因子突变引起的 MODY 患者通常可以用低剂量磺脲类药物成功治疗。新生儿糖尿病定义为出生后 6 个月内发生的糖尿病，大多数永久性新生儿糖尿病患者可以用大剂量磺脲类药物治疗。
单基因糖尿病遗传病因的发现极大地促进了我们对这些罕见形式糖尿病的理解和管理。
