Gach Agnieszka, Gadzicka Anna, Młynarski Wojciech
l Katedra Pediatrii Kliniki Chorób Dzieci UM w Łodzi.
Pediatr Endocrinol Diabetes Metab. 2008;14(1):45-9.
Diabetes, which is diagnosed before 6 months of age, is patogenetically different than type 1 diabetes. This kind of diabetes also known as a neonatal diabetes is genetically determined with monogenic mode of inheritance. Most of these patients are carriers of heterozygous mutation in the KCNJ11 or ABCC8 gene. These mutations may activate the Kir6.2/SUR1 potassium channel in the beta cells and disturb insulin secretion, which in consequence leads to diabetes. This patological phenomenon is reversible if sulfonylureas are used as a first line therapy. In the current paper a systematic review of clinical aspects of sulfonylurea treatment in neonatal diabetes has been performed. This gives the further evidence that knowlegde of the patogenesis of neonatal diabetes may be easily transferred to bedside and clinical practice.
6个月龄前诊断出的糖尿病在发病机制上与1型糖尿病不同。这种糖尿病也被称为新生儿糖尿病，是由单基因遗传模式遗传决定的。这些患者中的大多数是KCNJ11或ABCC8基因杂合突变的携带者。这些突变可能会激活β细胞中的Kir6.2/SUR1钾通道并干扰胰岛素分泌，进而导致糖尿病。如果将磺脲类药物用作一线治疗，这种病理现象是可逆的。在当前的论文中，对新生儿糖尿病磺脲类治疗的临床方面进行了系统综述。这进一步证明，新生儿糖尿病发病机制的知识可以很容易地应用于临床实践。
