摘要
维生素D缺乏性佝偻病(简称佝偻病)是由于儿童体内维生素D不足引起钙、磷代谢紊乱,使正在生长的骨骼在成骨过程中不能正常沉着钙盐而产生的一种以骨骼病变为特征的全身慢性营养性疾病。目前认为环境因素及营养因素等是主要致病原因,但遗传因素在其发生发展中的作用正逐渐受到重视。维生素D是人体内钙稳态和骨代谢的主要调节因子之一,其在体内的主要活性代谢产物是1,25-(OH)2D3。维生素D受体(vitamin Dreceptor,VDR)是介导1,25-(OH)2D3发挥生物学效应的核内生物大分子,VDR是由VDR基因编码,因此VDR基因是研究骨代谢性疾病遗传基础的候选基因之一。文章就VDR基因多态性与佝偻病遗传易感性之间的关系作一综述。
Vitamin D deficiency rickets（rickets） is a systemic chronic nutritional disorder characterized by abnormal calcium and phosphorus metabolism induced by vitamin D deficiency.Since the calcium salt can not be normally deposited during the ossific process of the growing skeleton,leading to the pathologic changes of the skeleton.The factors of either the environment or the nutrition are believed to be the main pathogenesis.The importance of genetic factor in the development of the rickets is also being recognized gradually.Vitamin D is one of the major regulatory factors for the calcium homeostasis and the bone metabolism in human body,its main active metabolite is 1,25-（OH）2D3.The biological effect of 1,25-（OH）2D3 is mediated by the vitamin D receptor（VDR）,which is an intranuclear biomacromolecule.VDR encoded by VDR gene is one of candidate genes for exploring a hereditary basis of the bone metabolic disease.The review discusses the correlation of VDR gene polymorphisms with hereditary susceptibility of the rickets.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2010年第9期890-893,共4页
Journal of Clinical Pediatrics
