GENOTYPIC AND PHENOTYPIC CHARACTERIZATION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN LARGE-SCALE POPULATION STUDIES AND IMPLICATIONS FOR PRECISION MEDICINE INTERVENTIONS

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders, characterized by the progressive development of renal cysts leading to kidney failure. Large-scale population studies have provided significant insights into the genotypic and phenotypic variations of ADPKD, enhancing our understanding of disease progression and paving the way for precision medicine approaches. This paper explores the recent advancements in large-scale genetic analyses, phenotype-genotype correlations, and therapeutic implications for ADPKD. The findings emphasize the need for targeted treatments and early intervention strategies based on patient-specific genetic profiles.