摘要新生儿糖尿病（neonatal diabetes mellitus，NDM）是出生6个月内出现的一种罕见的单基因糖尿病。根据转归分为暂时性新生儿糖尿病（ transient neonatal diabetes mellitus，TNDM）和永久性新生儿糖尿病（permanent neonatal diabetes mellitus，PNDM），二者约各占50％。TNDM 婴儿期缓解，青春期或成年早期复发， PNDM 无缓解期。两者在临床表现上有重叠，需要长期随访进行分型。PNDM 的致病基因有20余种，其中最常见的是编码 ATP 敏感钾通道（KATP ）Kir6.2和 SUR1亚单位的 KCNJII 和 ABCC8，其次为 INS。TNDM 的70％由6q24印迹区域父源基因的过度表达引起，26％由 KCNJII、ABCC8、INS 和 HNFIB 突变所致。磺脲类药物通过关闭 KATP促进胰岛素的释放可以治疗 KATP突变引起的高血糖，并且改善患儿的神经系统症状，但仍有10％的KCNJII和15％ ABCC8突变者不能实现胰岛素到格列苯脲的转换。分子诊断有助于 NDM 的分型、判断预后及实现个体化治疗。

abstractsNeonatal diabetes mellitus(NDM)occurs within the first 6 months of life. Depending on clinical outcomes,it is classified into transient neonatal diabetes mellitus(TNDM)and permanent neonatal diabetes mellitus (PNDM). TNDM,which accounts for 50% of NDM goes into remission after treatment for an average period of 12 weeks,but relapse in puberty and early adulthood. PNDM,on the other hand,is a lifelong disease without remission. The clinical features of TNDM and PNDM overlap,and the typing is based on clinical remission on follow - up. More than 20 pathogenic genes have been identified in PNDM,of which the most common are KCNJII and ABCC8 encoding the Kir6. 2 and SUR1 subunits of KATP channel accounting for 50% . TNDM is caused by defects associated with overexpres-sion of paternally expressed genes in the imprinted region of chromosome 6q24 in 70% cases. About 26% of the defects contain mutations in KCNJII,ABCC8,INS or HNFIB. In vitro and clinical studies suggest that treatment with oral sul-fonylurea can close KATP channel and improve glycemic control and neuropsychological development. However,10% of patients with KCNJII and 15% ABCC8 mutations fail to achieve glycemic control when insulin therapy is switched to o-ral sulfonylureas. Therefore,molecular diagnosis is vital not only in accurate typing but also for better prognostication.