Ando Fumiaki, Uchida Shinichi
Department of Nephrology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.
Clin Exp Nephrol. 2018 Jun;22(3):501-507. doi: 10.1007/s10157-018-1544-8. Epub 2018 Feb 24.
Congenital nephrogenic diabetes insipidus (NDI) is characterized by defective urine concentrating ability. Symptomatic polyuria is present from birth, even with normal release of the antidiuretic hormone vasopressin by the pituitary. Over the last two decades, the aquaporin-2 (AQP2) gene has been cloned and the molecular mechanisms of urine concentration have been gradually elucidated. Vasopressin binds to the vasopressin type II receptor (V2R) in the renal collecting ducts and then activates AQP2 phosphorylation and trafficking to increase water reabsorption from urine. Most cases of congenital NDI are caused by loss-of-function mutations to V2R, resulting in unresponsiveness to vasopressin. In this article, we provide an overview of novel therapeutic molecules of congenital NDI that can activate AQP2 by bypassing defective V2R signaling with a particular focus on the activators of the calcium and cAMP signaling pathways.
先天性肾性尿崩症(NDI)的特征是尿液浓缩能力缺陷。即使垂体抗利尿激素血管加压素释放正常,出生时也会出现症状性多尿。在过去二十年中,水通道蛋白2(AQP2)基因已被克隆,尿液浓缩的分子机制也逐渐得到阐明。血管加压素与肾集合管中的血管加压素II型受体(V2R)结合,然后激活AQP2磷酸化和转运,以增加尿液中的水重吸收。大多数先天性NDI病例是由V2R功能丧失突变引起的,导致对血管加压素无反应。在本文中,我们概述了先天性NDI的新型治疗分子,这些分子可以通过绕过有缺陷的V2R信号传导来激活AQP2,特别关注钙和cAMP信号通路的激活剂。