PDF(Pubmed)
Abstract：
Genetic or hereditary kidney disease stands as a pivotal cause of chronic kidney disease (CKD). The proliferation and widespread utilization of DNA testing in clinical settings have notably eased the diagnosis of genetic kidney diseases, which were once elusive but are now increasingly identified in cases previously deemed CKD of unknown etiology. However, despite these diagnostic strides, research into disease pathogenesis and novel drug development faces significant hurdles, chiefly due to the dearth of appropriate animal models and the challenges posed by limited patient cohorts in clinical studies. Conversely, the advent and utilization of human-induced pluripotent stem cells (hiPSCs) offer a promising avenue for genetic kidney disease research. Particularly, the development of hiPSC-derived kidney organoid systems presents a novel platform for investigating various forms of genetic kidney diseases. Moreover, the integration of the CRISPR/Cas9 technique into this system holds immense potential for efficient research on genetic kidney diseases. This review aims to explore the applications of in vitro kidney organoids generated from hiPSCs in the study of diverse genetic kidney diseases. Additionally, it will delve into the limitations of this research platform and outline future perspectives for advancing research in this crucial area.
摘要：
遗传性或遗传性肾脏疾病是慢性肾脏疾病（CKD）的关键原因。DNA检测在临床环境中的增殖和广泛使用显着缓解了遗传性肾脏疾病的诊断，这些疾病曾经难以捉摸，但现在在以前被认为病因不明的CKD病例中越来越多地被发现。然而,尽管有这些诊断上的进步，对疾病发病机制和新药开发的研究面临重大障碍，主要是由于缺乏适当的动物模型以及临床研究中有限的患者队列带来的挑战。相反，人类诱导多能干细胞(hiPSCs)的出现和利用为遗传性肾病研究提供了一条有希望的途径.特别是,hiPSC来源的肾脏类器官系统的发展为研究各种形式的遗传性肾脏疾病提供了新的平台。此外，将CRISPR/Cas9技术整合到该系统中对于有效研究遗传性肾脏疾病具有巨大潜力.本文旨在探讨由hiPSCs产生的体外肾脏类器官在多种遗传性肾脏疾病研究中的应用。此外,它将深入研究这个研究平台的局限性，并概述推进这一关键领域研究的未来前景。
