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Polycystic kidney disease.
Nature Reviews Disease Primers ( IF 76.9 ) Pub Date : 2018-12-06 , DOI: 10.1038/s41572-018-0047-y Carsten Bergmann 1 , Lisa M Guay-Woodford 2 , Peter C Harris 3 , Shigeo Horie 4 , Dorien J M Peters 5 , Vicente E Torres 3
Nature Reviews Disease Primers ( IF 76.9 ) Pub Date : 2018-12-06 , DOI: 10.1038/s41572-018-0047-y Carsten Bergmann 1 , Lisa M Guay-Woodford 2 , Peter C Harris 3 , Shigeo Horie 4 , Dorien J M Peters 5 , Vicente E Torres 3
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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.
中文翻译：
多囊肾。
在儿童和成人中，囊性肾脏都是导致终末期肾脏疾病的常见原因。常染色体显性遗传性多囊性肾脏疾病（ADPKD）和常染色体隐性隐性多囊性肾脏疾病（ARPKD）是与纤毛相关的疾病，也是单基因性囊性肾脏疾病的两种主要形式。ADPKD是常见于成年人的常见疾病，而ARPKD是多囊性肾脏病（PKD）的一种罕见且通常更为严重的形式，通常在围产期或儿童早期出现。细胞生物学和临床研究方法扩展了我们对ADPKD和ARPKD发病机理的认识，并揭示了它们之间的一些机理重叠。减少PKD蛋白的“剂量”被认为会干扰细胞稳态和会聚信号通路，例如Ca2 +，cAMP，雷帕霉素的机械靶标，WNT，血管内皮生长因子和Hippo信号传导，可以解释某些PKD患者的更严重的临床病程。遗传诊断可能会使家庭受益，并改善患者的临床管理，而新兴的治疗选择可能会进一步增强遗传诊断。但是，关于PKD发病机理的许多重要问题仍然存在。在本入门手册中，我们提供了有关PKD及其治疗的最新知识的概述。
更新日期：2019-05-16
中文翻译：
多囊肾。
在儿童和成人中，囊性肾脏都是导致终末期肾脏疾病的常见原因。常染色体显性遗传性多囊性肾脏疾病（ADPKD）和常染色体隐性隐性多囊性肾脏疾病（ARPKD）是与纤毛相关的疾病，也是单基因性囊性肾脏疾病的两种主要形式。ADPKD是常见于成年人的常见疾病，而ARPKD是多囊性肾脏病（PKD）的一种罕见且通常更为严重的形式，通常在围产期或儿童早期出现。细胞生物学和临床研究方法扩展了我们对ADPKD和ARPKD发病机理的认识，并揭示了它们之间的一些机理重叠。减少PKD蛋白的“剂量”被认为会干扰细胞稳态和会聚信号通路，例如Ca2 +，cAMP，雷帕霉素的机械靶标，WNT，血管内皮生长因子和Hippo信号传导，可以解释某些PKD患者的更严重的临床病程。遗传诊断可能会使家庭受益，并改善患者的临床管理，而新兴的治疗选择可能会进一步增强遗传诊断。但是，关于PKD发病机理的许多重要问题仍然存在。在本入门手册中，我们提供了有关PKD及其治疗的最新知识的概述。
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