Genetics and pathophysiology of neonatal diabetes mellitus.
Genetics and pathophysiology of neonatal diabetes mellitus.
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DOI：
10.1111/j.2040-1124.2011.00106.x
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发表时间：
2011-06-05
影响因子：
3.2
通讯作者：
Philipson LH
中科院分区：
文献类型：
--
作者：
Naylor RN;Greeley SA;Bell GI;Philipson LH
新生儿糖尿病（NDM）是通常用于描述6个月龄前发病的糖尿病的术语。 大约每10万至30万活产婴儿中就有一人发生。虽然这个术语包括任何病因的糖尿病，但公认在6个月龄前诊断的NDM通常是单基因的。 临床上，NDM亚组包括短暂性（TNDM）和永久性NDM（PNDM），以及NDM的综合征病例。TNDM通常在生命的最初几周内发展，并在几个月大时缓解。然而，复发发生在50%的情况下，通常在青春期或成年期。TNDM最常由染色体6 q24印迹区域的异常引起，导致父系衍生基因的过表达。编码β细胞膜上三磷酸腺苷敏感性钾通道的两个亚基的KCNJ 11和ABCC 8突变可导致TNDM，但更常见的是导致PNDM。KCNJ 11和ABCC 8突变导致的NDM通常对磺脲类药物有反应，允许从胰岛素治疗过渡。对β细胞功能和调节重要的其他基因突变以及胰岛素基因本身的突变也会导致NDM。在40%的NDM病例中，遗传原因仍然未知。正确识别单基因NDM对适当的治疗、预期的病程和相关疾病以及对高危家庭成员进行基因检测具有重要意义。单基因NDM的早期识别允许实施适当的治疗，从而改善结局并节省潜在的社会成本。（J Diabetes Invest，doi：10.1111/j.2040 - 1124.2011.00106.x，2011）
Neonatal diabetes mellitus (NDM) is the term commonly used to describe diabetes with onset before 6 months‐of‐age. It occurs in approximately one out of every 100,000–300,000 live births. Although this term encompasses diabetes of any etiology, it is recognized that NDM diagnosed before 6 months‐of‐age is most often monogenic in nature. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM), as well as syndromic cases of NDM. TNDM often develops within the first few weeks of life and remits by a few months of age. However, relapse occurs in 50% of cases, typically in adolescence or adulthood. TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24, leading to overexpression of paternally derived genes. Mutations in KCNJ11 and ABCC8, encoding the two subunits of the adenosine triphosphate‐sensitive potassium channel on the β‐cell membrane, can cause TNDM, but more often result in PNDM. NDM as a result of mutations in KCNJ11 and ABCC8 often responds to sulfonylureas, allowing transition from insulin therapy. Mutations in other genes important to β‐cell function and regulation, and in the insulin gene itself, also cause NDM. In 40% of NDM cases, the genetic cause remains unknown. Correctly identifying monogenic NDM has important implications for appropriate treatment, expected disease course and associated conditions, and genetic testing for at‐risk family members. Early recognition of monogenic NDM allows for the implementation of appropriate therapy, leading to improved outcomes and potential societal cost savings. (J Diabetes Invest, doi:10.1111/j.2040‐1124.2011.00106.x, 2011)
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影响因子：
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