Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which constitute the main cause of morbidity and markedly affect the quality of life. Liver cysts arise in patients with autosomal dominant PLD (ADPLD) or in co-occurrence with renal cysts in patients with autosomal dominant or autosomal recessive polycystic kidney disease (ADPKD and ARPKD, respectively). Hepatic cystogenesis is a heterogeneous process, with several risk factors increasing the odds of developing larger cysts. Depending on the causative gene, PLDs can arise exclusively in the liver or in parallel with renal cysts. Current therapeutic strategies, mainly based on surgical procedures and/or chronic administration of somatostatin analogues, show modest benefits, with liver transplantation as the only potentially curative option. Increasing research has shed light on the genetic landscape of PLDs and consequent cholangiocyte abnormalities, which can pave the way for discovering new targets for therapy and the design of novel potential treatments for patients. Herein, we provide a critical and comprehensive overview of the latest advances in the field of PLDs, mainly focusing on genetics, pathobiology, risk factors and next-generation therapeutic strategies, highlighting future directions in basic, translational and clinical research.

多囊性肝病 (PLD) 是一种遗传性疾病，其特征是逐渐发展为肝内充满液体的胆管囊肿（超过 10 个），这是发病的主要原因，并显着影响生活质量。肝囊肿出现在常染色体显性遗传 PLD (ADPLD) 患者中，或与肾囊肿同时出现在常染色体显性遗传或常染色体隐性遗传多囊肾病（分别为 ADPKD 和 ARPKD）患者中。肝脏囊肿形成是一个异质过程，有几个风险因素会增加形成更大囊肿的几率。根据致病基因，PLD 可以仅在肝脏中出现或与肾囊肿同时出现。目前的治疗策略，主要基于外科手术和/或生长抑素类似物的长期给药，显示出适度的益处，肝移植是唯一可能治愈的选择。越来越多的研究揭示了 PLD 的遗传景观和随之而来的胆管细胞异常，这可以为发现新的治疗靶点和为患者设计新的潜在治疗方法铺平道路。在此，我们对 PLD 领域的最新进展进行了重要而全面的概述，主要关注遗传学、病理生物学、风险因素和下一代治疗策略，突出了基础、转化和临床研究的未来方向。这可以为发现新的治疗靶点和为患者设计新的潜在治疗方法铺平道路。在此，我们对 PLD 领域的最新进展进行了重要而全面的概述，主要关注遗传学、病理生物学、风险因素和下一代治疗策略，突出了基础、转化和临床研究的未来方向。这可以为发现新的治疗靶点和为患者设计新的潜在治疗方法铺平道路。在此，我们对 PLD 领域的最新进展进行了重要而全面的概述，主要关注遗传学、病理生物学、风险因素和下一代治疗策略，突出了基础、转化和临床研究的未来方向。