Autosomal dominant polycystic kidney disease with Caroli-like hepatic cystic lesions: A genetically confirmed family case series

AIM: To describe a genetically confirmed family case series of autosomal dominant polycystic kidney disease (ADPKD) presenting with hepatic cystic lesions that mimicked Caroli disease and to highlight the diagnostic value of integrating imaging findings with molecular genetic testing. MATERIALS AND METHODS: A 36-year-old man with multiple hepatic and renal cysts and a positive family history of cystic kidney disease underwent comprehensive clinical evaluation, laboratory testing, abdominal ultrasonography, abdominal magnetic resonance imaging, and whole-exome sequencing. Clinical and genetic findings were assessed in affected family members. RESULTS: variant (c.2407C>T, p.Arg803*; rs778235410) in all affected family members, confirming the diagnosis of ADPKD type 2. The coexistence of polycystic liver disease and Caroli-like biliary abnormalities created a diagnostic challenge. Integration of family history, imaging findings, and genetic testing enabled accurate diagnosis and appropriate clinical management. CONCLUSION: variants may present with hepatic cystic lesions that resemble Caroli disease. This case series underscores the importance of combining imaging studies with genetic testing in the differential diagnosis of hereditary cystic hepatobiliary disorders and supports the role of molecular diagnostics in guiding clinical management and genetic counseling.