Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Diabetes Res Clin Pract. 2009 Dec;86 Suppl 1:S15-21. doi: 10.1016/S0168-8227(09)70004-X. Epub 2009 Dec 18.
Diabetes mellitus is not a single disorder but rather a heterogeneous group of diseases that differ in respect to pathogenesis, the clinical picture and the response to dietary and pharmacological treatments. Thus, the differential diagnosis of various types and forms of diabetes is of great practical importance. This is particularly true for monogenic disease forms where some spectacular applications of pharmacogenetics have recently been described. Unfortunately, most patients with monogenic diabetes such as maturity-onset diabetes of the young (MODY) or neonatal diabetes have not undergone diagnostic molecular testing, so they can not benefit from the progress seen in this field. The reasons for this include the complexity and cost of molecular diagnostics. One of ways to change this situation is to find an efficient and cheap test to screen thousands of patients for specific forms of monogenic diabetes. These tests can be based on biomarkers discovered by one of two general strategies: a candidate approach or a systematic search based on metabonomics or proteonomics. This review summarizes recent advances in the search for putative biomarkers and the perspectives of the future progress.
糖尿病不是一种单一的疾病，而是一组异质性疾病，它们在发病机制、临床表现和对饮食及药物治疗的反应方面存在差异。因此，对各种类型和形式的糖尿病进行鉴别诊断具有重要的实际意义。对于单基因疾病形式尤其如此，最近已经描述了一些基因药理学的惊人应用。不幸的是，大多数患有单基因糖尿病的患者，如成年起病的青年型糖尿病（MODY）或新生儿糖尿病，并没有进行诊断性分子检测，因此他们无法从该领域的进展中受益。造成这种情况的原因包括分子诊断的复杂性和成本。改变这种情况的方法之一是找到一种有效且廉价的测试方法，以便对数千名患者进行特定形式的单基因糖尿病筛查。这些测试可以基于通过两种一般策略之一发现的生物标志物：候选方法或基于代谢组学或蛋白质组学的系统搜索。本文综述了寻找潜在生物标志物的最新进展以及未来进展的展望。
