Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Adv Chronic Kidney Dis. 2010 Mar;17(2):190-204. doi: 10.1053/j.ackd.2010.01.006.
More frequent utilization and continuous improvement of imaging techniques has enhanced appreciation of the high phenotypic variability of autosomal dominant polycystic kidney disease, improved understanding of its natural history, and facilitated the observation of its structural progression. At the same time, identification of the PKD1 and PKD2 genes has provided clues to how the disease develops when they (genetic mechanisms) and their encoded proteins (molecular mechanisms) are disrupted. Interventions designed to rectify downstream effects of these disruptions have been examined in animal models, and some are currently tested in clinical trials. Efforts are underway to determine whether interventions capable to slow down, stop, or reverse structural progression of the disease will also prevent decline of renal function and improve clinically significant outcomes.
更频繁地利用和不断改进成像技术，提高了对常染色体显性多囊肾病表型高度可变性的认识，加深了对其自然病史的理解，并有助于观察其结构进展。同时，PKD1 和 PKD2 基因的鉴定为了解疾病的发展提供了线索，当它们（遗传机制）及其编码蛋白（分子机制）受到干扰时。已经在动物模型中研究了旨在纠正这些干扰的下游影响的干预措施，有些目前正在临床试验中进行测试。目前正在努力确定是否能够减缓、停止或逆转疾病结构进展的干预措施也将防止肾功能下降并改善临床显著结果。
