摘要新生儿糖尿病是一类少见的内分泌代谢疾病.晚近发现,不少患儿携带Kir 6.2激活突变,突变的Kir 6.2通过影响ATP敏感性钾通道的正常关闭及胰岛素的释放而致病.此类突变患者大多对磺脲类药物较敏感,口服磺脲类药物有望成为主要的治疗手段.
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abstractsNeonatal diabetes is a rare endocrine disorder.According to recent studies,many children with permanent diabetes carry a Kir 6.2 activating mutation.Mutant Kir 6.2 subunit affects the closure of ATP-sensitive potassium channel and insulin release,which leads to diabetes.Most of the mutants are sensitive to sulfonylureas.Sulfonylureas are of great significance in the treatment of these patients.
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