中国血液净化

中国血液净化 ›› 2018, Vol. 17 ›› Issue (05): 313-316.doi: 10.3969/j.issn.1671-4091.2018.05.006

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维生素D受体(VDR)基因多态性与PTH研究进展

史亚男1,李忠心1   

  1. 1. 首都医科大学附属北京潞河医院肾病中心
  • 收稿日期:2017-11-02 修回日期:2017-12-29 出版日期:2018-05-12 发布日期:2018-05-12
  • 通讯作者: 史亚男319916616@qq.com E-mail:319916616@qq.com

Research progress of polymorphism in vitamin D receptor (VDR) gene and parathyroid hormone

  • Received:2017-11-02 Revised:2017-12-29 Online:2018-05-12 Published:2018-05-12

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摘要： 【摘要】低转运性骨病为终末期肾病透析患者最常见的骨病类型之一，其重要特征为甲状旁腺激素(parathyroid hormone，PTH)水平低下。PTH 相对不足、活性维生素D 的过度应用及甲状旁腺切除术等医源性因素、高龄、糖尿病、酸中毒等多种因素均为低转运性骨病可能的病因。研究显示，PTH 水平与维生素D 受体(vitamin Dreceptor，VDR)基因多态性有关。VDR 具有四个多态性位点，其中BsmI 位点多态性与血液透析患者PTH水平相关，“B”等位基因可能为血液透析患者血PTH 水平低下的原因之一。

关键词: 低转运性骨病, 低甲状旁腺激素, 维生素D受体, 基因多态性

Abstract: 【Abstract】Low transport bone disease, one of the most common types of bone disease in dialysis patients with end-stage renal disease, is characterized by low level of parathyroid hormone (PTH). The possible causes of low transport osteopathy include relative deficiency of PTH, iatrogenic factors, older age, diabetes mellitus, acidosis, etc. Studies have shown that PTH level is associated with the polymorphisms in vitamin D receptor (VDR) gene. VDR has four polymorphic loci, and BsmI polymorphism is related to PTH level in hemodialysis patients. "B" allele may be one of the causes of low PTH level in hemodialysis patients.

Key words: Low transport osteopathy, low parathyroid hormone, vitamin D receptor, gene polymorphism