摘要多囊肾病(polycystic kidney disease,PKD)是由基因突变所导致的一类遗传性肾病,按其遗传方式又分为常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)和常染色体隐性多囊肾病(autosomal recessive polycystic kidney disease,ARPKD).该病的主要病理特点是肾脏囊肿进行性增大、增多,破坏正常的肾脏结构,最终导致终末期肾病(end stage renal disease,ESRD),患者只能依靠透析或肾移植维持生命.我们在参考国内外本领域的基础研究、临床研究和相关指南共识的基础上,结合中国人群的实际情况编写了该项指南,旨在总结多囊肾病的医学遗传学知识和临床处置要点,以提高临床医师的认识水平,为该病的诊治提供规范化建议.

abstractsPolycystic kidney disease (PKD) is a group of hereditary kidney diseases caused by genetic mutations.Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the two main forms of PKD.The pathological features of PKD include progressive enlargement of renal cysts and destruction of kidney structure,which may eventually lead to end-stage renal disease (ESRD).As a result,the lives of PKD patients can only be sustained by dialysis or kidney transplantation.On the basis of basic research,clinical studies and guidelines issued for PKD at home and abroad,and by combining with the reality of Chinese PKD patients,this guideline has summarized the key points for the genetic counseling and clinical treatment of PKD,with an aim to improve the understanding and standardized diagnosis and treatment for such disorders.