| Abstract [eng] |
Cystic kidney diseases have been studied worldwide; however, in Lithuania and other Baltic countries, no systematic studies investigating these disorders have been conducted to date. This study aimed to evaluate the spectrum of phenotypic and genotypic variation in individuals with multiple kidney cysts and to identify genotype–phenotype associations in the PKD1/PKD2 group. A cohort study was carried out between 2021 and 2025 at Vilnius University Hospital Santaros Klinikos. The study included 114 individuals from 102 families presenting with either a specific cystic kidney disease phenotype or nonspecific multiple renal cysts. A molecular diagnosis was established in 68.63% of families, most commonly autosomal dominant polycystic kidney disease (ADPKD). The diagnostic yield was significantly higher in the group with a specific phenotype. Within the ADPKD group, a positive family history, increased kidney size, and the presence of liver cysts were associated with a higher likelihood of identifying a genetic cause. Most identified genetic variants were unique, and nearly half had not been previously reported in the literature. Variants in the PKD1 gene were associated with a more severe disease course. The results of this study confirm that cystic kidney diseases are characterized by marked clinical and genetic heterogeneity and demonstrate that accurate molecular diagnosis allows partial prediction of disease progression and supports more targeted clinical evaluation. |
