ADPKD is a ciliopathy distinguished by its phenotypic and genetic heterogeneity.1, 2, 3 Pathogenic variants in PKD1 and PKD2 genes, which code for PC1 and polycystin-2, respectively, are the most common genetic causes of ADPKD, accounting for approximately 93% of cases of ADPKD.4 The gene discussed is PKD2; the disease is autosomal dominant polycystic kidney disease.