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遗传性肾性尿崩症研究进展 被引量：3

Advances in hereditary nephrogenic diabetes insipidus
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摘要 遗传性肾性尿崩症（HNDI）是一种罕见的遗传性疾病，因肾脏缺陷使远端肾单位对精氨酸加压素（AVP）的抗利尿作用不敏感、肾单位不能正常浓缩尿液，引起严重脱水和电解质紊乱，如高钠血症和高氯血症。在低血容量或高钠血症刺激下，机体腺垂体释放出AVP，与集合管主细胞基底膜侧的AVP受体2（AVPR2）结合，激活腺苷酸环化酶及下游级联反应，使水通道蛋白2（AQP2）磷酸化，进而在渗透梯度作用下实现肾脏对水的重吸收。
作者 田丹 顾锋
机构地区 北京协和医院内分泌科
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2013年第8期663-665,共3页 Chinese Journal of Practical Internal Medicine
关键词 遗传性肾性尿崩症 基因突变 功能研究 hereditary nephrogenic diabetes insipidus gene mutation functional studies
分类号 R58 [医药卫生—内分泌]
  • 相关文献

参考文献15

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二级参考文献17

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共引文献9

同被引文献28

  • 1蒋殷睿,顾勇,刘少军,马骥,林善锬.精氨酸加压素V2受体拮抗剂对阿霉素肾病大鼠肾脏水通道蛋白的影响[J].上海医学,2004,27(8):563-566. 被引量：2
  • 2Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus[J]. J Am Soc Nephrol,2005,16(i0) :2836 -2846.
  • 3Peters HP, Robben JH, Deen PM, et al. Water in health and disease: new aspects of disturbances in water metabolism [J]. Neth J Med,2007 ,65(9) :325 -332.
  • 4Spanakis E, Milord E, Gragnoli C. A VPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance[J]. J Cell Physiol ,2008 ,217 (3) :605 - 617.
  • 5Sei Sasaki, Motoko Chiga, Eriko Kikuchi et al. Heredtary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in A VPR2 and AQP2 [J]. Clin Exp Nephrol,2013,17:338 -344.
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引证文献3

二级引证文献6

中国实用内科杂志
2013年 第8期

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