Neonatal diabetes mellitus: A model for personalized medicine

被引：57

作者：

Greeley, Siri Atma W. ^{[1
]}

Tucker, Susan E. ^{[2
]}

Naylor, Rochelle N. ^{[1
]}

Bell, Graeme I. ^{[2
]}

Philipson, Louis H. ^{[1
,2
]}

机构：

[1] Univ Chicago, Pritzker Sch Med, Dept Pediat, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA

[2] Univ Chicago, Pritzker Sch Med, Dept Med, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2010年 / 21卷 / 08期

基金：

美国国家卫生研究院;

关键词：

KCNJ11 ACTIVATING MUTATIONS; SULFONYLUREA RECEPTOR SUR1; CHANNEL SUBUNIT KIR6.2; INSULIN GENE-MUTATIONS; BETA-CELL DYSFUNCTION; DEVELOPMENTAL DELAY; DEND SYNDROME; COMMON-CAUSE; SUBCUTANEOUS INSULIN; ORAL SULFONYLUREAS;

D O I：

10.1016/j.tem.2010.03.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Neonatal diabetes mellitus occurs in approximately 1 out of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes encoding the two subunits of the ATP-sensitive potassium channel. In most of these patients, switching from insulin to oral sulfonylurea therapy leads to improved metabolic control, as well as possible amelioration of occasional associated neurodevelopmental disabilities. It remains to be determined what is the most appropriate treatment of other causes. The diagnosis and treatment of neonatal diabetes, therefore, represents a model for personalized medicine.

引用

页码：464 / 472

页数：9

共 106 条

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