肾脏纤毛病的研究进展  

Advances in the Study of the Renal Ciliopathies

作　　者：徐子晴 王墨[1,2] 

机构地区：[1]重庆医科大学附属儿童医院肾内科,儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地,重庆 [2]儿科学重庆市重点实验室,重庆

出　　处：《临床医学进展》2023年第5期7637-7644,共8页Advances in Clinical Medicine

摘　　要：初级纤毛是一种微管结构,作为特殊的感觉细胞器从细胞表面突出并固定在细胞骨架上。肾脏的初级纤毛是肾脏细胞的机械感受器,初级纤毛的功能受损则会引起囊肿的形成,进而导致各种肾脏疾病的发生。由于囊性肾损伤和全身炎症,肾脏纤毛病常进展至肾功能衰竭而需要肾脏替代治疗。目前肾脏纤毛病相关致病基因的具体发病机制尚未完全阐明,本综述主要总结肾脏纤毛病各个病种的临床特点、致病基因、发病机制及诊断治疗等方面的研究进展。Primary cilia are microtubule structures that protrude from the cell surface as specialized sensory organelles and are anchored to the cytoskeleton. The primary cilia of the kidney are mechanore-ceptors of the kidney cells, and the impairment of the function of the primary cilia will lead to the formation of cysts, which will lead to the occurrence of various kidney diseases. Renal ciliopathies often progress to renal failure and require renal replacement due to cystic kidney injury and sys-temic inflammation. At present, the specific pathogenesis of pathogenic genes related to renal cili-opathies has not been fully elucidated. This review mainly summarizes the clinical characteristics, pathogenic genes, pathogenesis, diagnosis and treatment of each disease of renal ciliopathies.

关 键 词：初级纤毛 肾脏纤毛病 常染色体显性多囊肾病(ADPKD) 常染色体隐形多囊肾(ARPKD) 肾单位肾痨(NPHP) NPHP相关性纤毛病(NPHP-RC) 眼脑肾综合征(OCRL) 

分 类 号：R73[医药卫生—肿瘤]