PKD1 encodes polycystin-1, a critical component of a heteromeric calcium-permeable ion channel formed with PKD2 through a unique transient receptor potential (TRP) channel architecture 1. Both PKD1 and PKD2 are required for channel activity, which is activated by Wnt family members such as WNT3A and WNT9B 2. PKD1 functions in renal tubulogenesis and fluid-flow mechanosensation by the primary cilium in renal epithelium, regulating cilium length in conjunction with PKD2 to create negative feedback loops controlling flow-induced signaling 3. Autosomal dominant polycystic kidney disease (ADPKD), one of the most common monogenic disorders, results from heterozygous PKD1 mutations 1. Cyst formation occurs when PKD1 dosage falls below critical thresholds 4. Disease severity correlates strongly with mutation type: PKD1 truncating mutations cause more aggressive renal disease with greater risk of end-stage renal disease (ESRD) and death compared to PKD1 non-truncating mutations or PKD2 mutations 5. Recent evidence shows that miR-17 binding elements in PKD1 mRNA 3'-UTR repress translation; eliminating this motif increases polycystin-1 levels and alleviates cyst growth 4. Genetic analysis using targeted sequencing or whole-genome approaches enables definitive diagnosis and provides crucial prognostic information for disease management 6. PKD1 mutations represent a significant biomarker for predicting renal dysfunction progression in ADPKD patients 7.