常染色体显性成人多囊肾病研究新进展  

Recent advances in studies on autosomal dominant adult polycystic kidney disease

作　　者：余朝文 张思仲[1,2] 

机构地区：[1]四川大学华西临床医学院医学遗传研究室,成都610041 [2]生物治疗国家重点实验室人类疾病基因组学研究室

出　　处：《中华医学遗传学杂志》2010年第4期402-405,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30470960）;纽约中华医学基金会资助项目

摘　　要：成人多囊肾病是一种发病率高,危害严重的常染色体显性遗传病.该病发病晚,发病时往往已将致病基因传递给了下一代.由于发病的分子机制尚未完全明了,尚缺乏有效的治疗药物,使其预防和治疗比较困难.现将近年来成人多囊肾病在发病机制、诊断、治疗研究方面的最新进展作一介绍.Adult polycystic kidney disease （APKD） is a severe autosomal dominant inheritable renal disease with high incidence. Because of the late-onset of the disease, patients might have transferred the disease gene to the next generation when diagnosis is made. Since it＇s pathogenic molecular mechanism is still not completely clear and the shortage of effective medicines, the prevention and treatment of the disease is still not satisfactory. In the present article, the recent advances in the research on the pathogenesis, gene diagnosis and management of APKD are reviewed.

关 键 词：成人多囊肾病 分子诊断 基因诊断 

分 类 号：R692.1[医药卫生—泌尿科学]