The identified variants were validated using Sanger sequencing, and clinical data from the patients and their families were collected and analyzed.<h4>Results</h4>Nine novel mutation sites in <i>PKD1</i> were discovered across the pedigrees, including c.4247T > G, c.3298_3301delGAGT, c.4798A > G, c.7567G > A, c.11717G > C, c.7703 + 5G > C, c.3296G > A, c.8515_8516insG, and c.5524C > A. These mutations were found to be associated with a range of clinical phenotypes, including chronic kidney disease, hypertension, and polycystic liver. Here, PKD1 is linked to chronic kidney disease.