Systems-based, agnostic approaches focusing on transcriptomics data have been employed to understand the pathogenesis of polycystic kidney diseases (PKD). While multiple signaling pathways, including Wnt, mTOR and G-protein-coupled receptors, have been implicated in late stages of disease, there were few insights into the transcriptional cascade immediately downstream of Pkd1 inactivation. One of the consistent findings has been transcriptional evidence of dysregulated metabolic and cytoskeleton remodeling pathways. Recent technical developments, including bulk and single-cell RNA sequencing technologies and spatial transcriptomics, offer new angles to investigate PKD. In this article, we review what has been learned based on transcriptional approaches and consider future opportunities.

以转录组学数据为重点的基于系统的不可知论方法已被用于了解多囊肾病 (PKD) 的发病机制。虽然包括 Wnt、mTOR 和 G 蛋白偶联受体在内的多种信号通路与疾病的晚期有关，但对Pkd1失活下游的转录级联反应却很少见。一致的发现之一是代谢和细胞骨架重塑途径失调的转录证据。最近的技术发展，包括批量和单细胞 RNA 测序技术和空间转录组学，为研究 PKD 提供了新的角度。在本文中，我们回顾了基于转录方法所学到的知识，并考虑了未来的机会。