Polycystic kidney disease
Polycystic kidney disease
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多囊肾病
DOI：
10.1038/s41572-018-0047-y
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发表时间：
2018-12-06
影响因子：
81.5
通讯作者：
Torres, Vicente E.
中科院分区：
文献类型：
--
作者：
Bergmann, Carsten;Guay-Woodford, Lisa M.;Torres, Vicente E.
囊性肾是终末期肾脏疾病的常见原因，在儿童和成人中都是如此。常染色体显性多囊肾病（ADPKD）和常染色体隐性多囊肾病（ARPKD）是与纤毛相关的疾病，是单基因多囊肾病的两种主要形式。ADPKD是一种常见病，主要出现在成人中，而ARPKD是一种罕见且通常更严重的多囊肾病（PKD），通常出现在围产期或儿童早期。细胞生物学和临床研究方法扩大了我们对ADPKD和ARPKD发病机制的认识，并揭示了它们之间的一些机制重叠。减少PKD蛋白的“剂量”被认为会扰乱细胞稳态和趋同的信号通路，如Ca2+、cAMP、雷帕霉素的机制靶点、WNT、血管内皮生长因子和Hippo信号，这可以解释一些PKD患者更严重的临床过程。基因诊断可能会使家庭受益，并改善患者的临床管理，这可能会随着新出现的治疗选择而进一步加强。然而，关于PKD的发病机制仍然存在许多重要的问题。在本入门中，我们提供了PKD及其治疗的当前知识的概述。
Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Cell biological and clinical research approaches have expanded our knowledge of the pathogenesis of ADPKD and ARPKD and revealed some mechanistic overlap between them. A reduced 'dosage' of PKD proteins is thought to disturb cell homeostasis and converging signalling pathways, such as Ca2+, cAMP, mechanistic target of rapamycin, WNT, vascular endothelial growth factor and Hippo signalling, and could explain the more severe clinical course in some patients with PKD. Genetic diagnosis might benefit families and improve the clinical management of patients, which might be enhanced even further with emerging therapeutic options. However, many important questions about the pathogenesis of PKD remain. In this Primer, we provide an overview of the current knowledge of PKD and its treatment.