Department of Anesthesiology and Intensive Therapy, Semmelweis University, Budapest, Hungary.
Department of Physiology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
Front Endocrinol (Lausanne). 2023 May 24;14:1173601. doi: 10.3389/fendo.2023.1173601. eCollection 2023.
The diluting and concentrating function of the kidney plays a crucial role in regulating the water homeostasis of the body. This function is regulated by the antidiuretic hormone, arginine vasopressin through the type 2 vasopressin receptor (V2R), allowing the body to adapt to periods of water load or water restriction. Loss-of-function mutations of the V2R cause X-linked nephrogenic diabetes insipidus (XNDI), which is characterized by polyuria, polydipsia, and hyposthenuria. Gain-of-function mutations of the V2R lead to nephrogenic syndrome of inappropriate antidiuresis disease (NSIAD), which results in hyponatremia. Various mechanisms may be responsible for the impaired receptor functions, and this review provides an overview of recent findings about the potential therapeutic interventions in the light of the current experimental data.
肾脏的稀释和浓缩功能在调节身体的水稳态方面起着至关重要的作用。这种功能通过抗利尿激素，精氨酸加压素通过 2 型血管加压素受体（V2R）来调节，使身体能够适应水负荷或水限制期。V2R 的功能丧失性突变导致 X 连锁肾性尿崩症（XNDI），其特征是多尿、多饮和低尿。V2R 的获得性功能突变导致肾性尿崩症不合时宜的抗利尿激素综合征（NSIAD），导致低钠血症。各种机制可能导致受体功能受损，本综述根据当前的实验数据，就潜在的治疗干预措施提供了最新发现的概述。
