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

常染色体显性遗传性多囊肾病(ADPKD)是导致30-80岁终末期肾功能衰竭的最常见的遗传性疾病。虽然目前的基因型-表型相关性不能很好地解释变异性，但我们的目标是确定遗传特征作为预测的早期标志，以保证在囊性肾增大之前最佳的肾脏保护。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生殖系修饰物，并将确定差异转录和甲基组图谱。功能候选基因的验证将通过诱导多能干细胞来源的肾脏器官来进行。

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.