Department of Nephrology, Wuhan No.1 Hospital, Wuhan, China.
Department of Respiratory and Critical Care Medicine, Key Laboratory of Pulmonary Diseases of Health Ministry, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology, Wuhan, China.
Curr Med Chem. 2019;26(16):2962-2973. doi: 10.2174/0929867325666180330094434.
Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common monogenic kidney disease, is caused by mutations in the PKD1, PKD2 or, in a very limited number of families, GANAB genes. Although cellular and molecular mechanisms of this disease have been understood in the past 20 years, specific therapy approaches remain very little. Both experimental and clinical studies show that the mammalian or mechanistic target of rapamycin (mTOR) pathway plays an important role during cyst formation and enlargement in ADPKD. Studies in rodent models of ADPKD showed that mTOR inhibitors had a significant and long-lasting decrease in kidney volume and amelioration in kidney function. In the past over ten years, researchers have been devoting continuously to test mTOR inhibitors efficacy and safety in both preclinical studies and clinical trials in patients with ADPKD. In this review, we will discuss the mTOR pathway thoroughly, mainly focusing on current advances in understanding its role in ADPKD, especially the recent progress of mTOR inhibitors use in preclinical studies and clinical trials.
常染色体显性遗传性多囊肾病(ADPKD)是最常见的单基因肾脏疾病,由 PKD1、PKD2 或极少数家族的 GANAB 基因突变引起。尽管过去 20 年来已经了解了该疾病的细胞和分子机制,但特定的治疗方法仍然很少。实验和临床研究均表明,哺乳动物雷帕霉素靶蛋白(mTOR)途径在 ADPKD 囊肿形成和增大过程中起着重要作用。在 ADPKD 的啮齿动物模型中进行的研究表明,mTOR 抑制剂可显著且持久地减少肾脏体积并改善肾功能。在过去的十年中,研究人员一直在进行临床试验和临床前研究,以测试 mTOR 抑制剂在 ADPKD 患者中的疗效和安全性。在这篇综述中,我们将深入讨论 mTOR 途径,主要关注其在 ADPKD 中的作用的最新进展,特别是 mTOR 抑制剂在临床前研究和临床试验中的最新进展。