成人型多囊肾病儿童期发病机理初探

ANALYSIS OF THE MECHANISMS OF THE ONSET OF APKD IN CHILDHOOD

本文利用α-珠蛋白基因3-HVR探针对一个存在儿童期发病的成人型囊肾病(adult polycystic kidney disease,APKD)家系进行研究,发现该家系中APKD的发生是由于AP-KD1基因突变所致。但是APKD1基因突变本身并不足以导致该病的早发。结果提示APKD在儿童期的早发可能是其它遗传因素或环境因素共同作用的结果,或是基因组印记对APKD突变基因表达的修饰作用所致。

Adult polycystic kidney disease (APKD) is a delayed dominant inherited disease. The mean age of onset of APKD is 40-year old. Using a probe a-globin 3HVR. the APKD in a family with onset in childhood cauesd by the mutation of APKD1 gene was found. it was not enough to cause the onset of APKD earlier for the APKDl mutation itself, because the onset of APKD in the family occured spontaneously in childhood and in adult. The result suggested that the earlier onset of APKD was caused by other genetic factors or enviro- mental factors, or it was the result of the modification of 'genomic imprinting' to the expression of the mutat- ed APKDl gene.