Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes. This in turn provides new opportunities to explore disease mechanisms and therapeutic approaches to target cystic kidney disease and other associated phenotypes. Here we review recent advances in the field of renal ciliopathies and how these allow new insights into this fascinating spectrum of diseases.

中文翻译：

---

肾纤毛病。

肾纤毛病是一组以肾炎，囊性肾脏或肾囊性不典型增生为特征的疾病，其潜在的疾病发病机制与原发性纤毛复合体的异常结构或功能有关。随着基因组学和遗传学方法确定新的原因，肾病的发病率继续增加。这反过来为探索针对囊性肾病和其他相关表型的疾病机制和治疗方法提供了新的机会。在这里，我们回顾了肾纤毛病领域的最新进展，以及这些进展如何为这种令人着迷的疾病谱提供新的见解。