常染色体显性遗传性多囊肾病的研究进展  

Research Progress of Autosomal Dominant Polycystic Kidney Disease

作　　者：黄璐璐 巴应贵[1] 

机构地区：[1]青海大学附属医院肾病科,青海 西宁

出　　处：《临床医学进展》2022年第4期3337-3343,共7页Advances in Clinical Medicine

摘　　要：人类常染色体显性遗传性多囊肾病(ADPKD)又称为成人型多囊肾,占人类单基因遗传病的第三位,是一种常见的遗传性肾功能紊乱综合征,主要病理特征是双侧肾脏形成大小不等的囊泡,囊泡进行性生长,肾实质功能单位受压,进而破坏肾脏的正常结构和功能,最终发展至尿毒症期,并可累计多个脏器系统。近年来,多囊肾病的治疗研究不断取得进展,本文主要对ADPKD发病机制、临床表现、诊断及治疗进行综述。Human autosomal dominant polycystic kidney disease (ADPKD), also known as adult polycystic kidney disease, accounts for the third single-gene genetic disease in humans, which is a common hereditary renal dysfunction syndrome. The main pathological features are the formation of bi-lateral kidney vesicles of different sizes, vesicles progressive growth, renal parenchymal function unit pressure, then destroy the normal structure and function of the kidney, and eventually develop to the stage of uremia, and can accumulate a number of organ systems. In recent years, research on the treatment of polycystic kidney disease has made continuous progress. This paper mainly reviews the pathogenesis, clinical manifestations, diagnosis and treatment of ADPKD.

关 键 词：多囊肾 常染色体显性遗传 

分 类 号：R692[医药卫生—泌尿科学]