Yu Chao-wen, Zhang Si-zhong
Department of Medical Genetics, West China Medical School, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):402-5. doi: 10.3760/cma.j.issn.1003-9406.2010.04.009.
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 its 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.
成人多囊肾病(APKD)是一种严重的常染色体显性遗传性肾脏疾病,发病率较高。由于该病发病较晚,患者在确诊时可能已将致病基因传递给下一代。由于其致病分子机制仍不完全清楚且缺乏有效的药物,该病的防治仍不尽人意。本文综述了成人多囊肾病发病机制、基因诊断及治疗方面的最新研究进展。