多囊肾病诊治进展

Advances in diagnosis and treatment of polycystic kidney disease

多囊肾病(PKD)是一种常见的单基因遗传性疾病,是终末期肾病的第4位病因。迄今,临床上仍然缺乏对疾病进展的敏感监测方法和有效的治疗手段。目前主要治疗措施是控制并发症,延缓疾病进展。随着影像学技术和ADPKD分子遗传学研究的进展,对常染色体显性遗传性PKD(ADPKD)的诊断及药物干预热点集中在应用影像学方法评价PKD进展,阻断肾素-血管紧张素系统、抑制囊肿细胞增殖和囊液异常分泌,以及其他新的诊疗措施,以达到延缓PKD进展的目的。这些问题的深入研究将有助于阐明ADPKD的发病机制,为临床彻底治愈ADPKD奠定基础。

Autosomal dominant polycystic kidney disease （ADPKD） is a common single-gene inherited kidney disease,and it is also the fourth leading cause of end-stage renal disease （ESRD）. Currently, no effective treatment exists to delay ADP- KD progression. The present strategy is to inhibit ADPKD progression and control complications. In recent years,with the development of radiological and molecular genetical techniques, researchers were focusing on using imaging methods to eval- uate ADPKD progression, and promising therapies included blockade of RAAS,inhibition of cell proliferation and abnormal cyst fluid secretion~ and other new diagnostic and treatment strategies. Further investigations of these issues will help to elu- cidate the pathogenic mechanisms of ADPKD and lay the basis for clinical cure of this disease in the future.