Segmental Caroli’s Disease in Autosomal Dominant Polycystic Kidney Disease: A Rare Association
Year: 2026
Type: article
Study design: Case Report
Abstract: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common disorder characterised by progressive renal cyst formation and other extrarenal manifestations, while Caroli’s disease is a rare autosomal recessive disorder involving intrahepatic bile duct dilatation with its segmental variant being exceptionally uncommon. We report a 40-year-old man with known ADPKD who, during MRI-based renal volumetry, was incidentally found to have segmental Caroli’s disease involving hepatic segments V and VI, demonstrated by localised biliary dilatations and the characteristic “central dot sign.” Laboratory tests revealed mildly impaired renal function but normal liver parameters. This case highlights a rare phenotypic overlap between distinct ciliopathy disorders, underscoring the need for further research into shared genetic or modifying factors influencing bile duct morphogenesis in ADPKD.
Authors: Praveen Thirumal, Ramakrishna Narayanan
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $275
OpenAlex ID: W7154754184
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