糖尿病肾病基因分子机制的研究进展

Recent progress of the genetic molecular mechanisms in diabetic nephropathy

糖尿病肾病（DN）是终末期肾功能衰竭的常见原因，其分子机制尚未完全阐明。通过对DN患者家系的基因连锁分析和病例对照研究，发现一些基因遗传标记的多态性和DN易感性有关，提示遗传基因在DN发病中扮演重要角色。应用实时逆转录-PCR、基因芯片等技术研究DN患者活检肾组织、DN动物模型及培养的肾脏细胞，发现许多基因的异常表达可引起细胞外基质增多、肾小球肥大和小管间质纤维化，从而可能参与了DN的病理生理过程。

Diabetic nephropathy is a common cause of end-stage renal failure, whose molecular mechanism remains unclear. Family genetic linkage analysis and case-control study in patients with diabetic nephropathy have shown that some genetic polymorphisms can increase the susceptibility to diabetic nephropathy. Genetic background may play an important role in the pathogenesis of diabetic nephropathy. Using real-time RT-PCR and microarray, studies in cuhured renal cells, animal models and patients with diabetic nephropathy have revealed that altered gene expression can result in the accumulation of extracellular matrix, enlargement of glomeruli as well as tubuleinterstitial fibrosis, which may precipitate the pathophysiologic process of diabetic nephropathy.