This study features 3 innovative aspects: 1 we screened PKD1/PKD2 mutations in the largest sample of Chinese ADPKD patients using an advanced sequencing technique (targeted next-generation sequencing); 2 this study was the first to compare mutation features between Chinese (Asian) patients and Caucasian (Western) patients with ADPKD; 3 we correlated the detailed genotype (with/without mutation, mutation number, mutation location, mutation pathogenic type etc.)and clinical phenotype (detailed clinical data). The gene discussed is PKD2; the disease is autosomal dominant polycystic kidney disease.