Renoprotection by discriminating favorable from unfavorable genetic backgrounds in polycystic kidney disease (A09*)

常染色体显性多囊肾病（ADPKD）是最常见的遗传性疾病，导致30-80岁之间的终末期肾衰竭。虽然目前的基因型-表型相关性很难解释变异性，但我们的目标是确定遗传性状作为预测的早期标记，以确保在囊肾增大之前获得最佳的肾保护。为了确定保护因素，我们将分析新的pkd疾病基因的非典型轻度病例，探索通用和疾病特异性种系修饰因子，并将确定差异转录组和甲基组谱。功能候选基因验证将通过诱导多能干细胞衍生的肾类器官进行。

Autosomal-dominant polycystic kidney disease (ADPKD) is the commonest genetic disorder causing end-stage kidney failure between ages 30-80 years. While current genotype-phenotype correlations poorly explain variability, we aim to identify genetic traits as early markers of prognostication to warrant optimal renoprotection before cystic kidney enlargement. To identify protective factors, we will analyze atypically mild cases for new PKD-disease genes, explore generic and disease-specific germline modifiers, and will determine differential transcriptomic and methylomic profiles. Functional candidate gene validation will take place by induced pluripotent stem cell-derived kidney organoids.