背景:持久性新生儿糖尿病通常出现在出生后前3 个月的时间里,需要胰岛素治疗。多数情况下,其病因尚不清楚。因为ATP敏感的钾通道(KATP)参与了胰腺β细胞葡萄糖刺激的胰岛素分泌,因此我们推测使这一通道(KCNJ11)基因编码的Kir6.2亚单位激活突变,就可以引起新生儿糖尿病。方法:我们对29例患有持久性新生儿糖尿病患者的KCNJ11基因进行测序,对该基因有 Background: Persistent neonatal diabetes usually occurs in the first 3 months after birth and requires insulin therapy. In most cases, the etiology is not clear. Because ATP-sensitive potassium channels (KATP) are involved in pancreatic β-cell glucose-stimulated insulin secretion, we hypothesize that activating Kir6.2 subunit mutations encoded by this channel (KCNJ11) gene may cause neonatal diabetes. METHODS: We sequenced the KCNJ11 gene in 29 patients with persistent neonatal diabetes who had