Caroli's disease is a congenital non-obstructive dilatation of the intrahepatic bile ducts. The association of Caroli's disease with hepatic fibrosis and portal hypertension is called Caroli syndrome. The underlying genetic mutation most often implicated is in the gene encoding:

• A CFTR (cystic fibrosis transmembrane conductance regulator)
• B PKD1/PKD2 (polycystin)
• C ABCB4 (MDR3)
• D PKHD1 (fibrocystin/polyductin) ✓

Explanation

Caroli syndrome (Caroli's disease + congenital hepatic fibrosis) is caused by mutations in PKHD1, the gene encoding fibrocystin/polyductin, which is also responsible for autosomal recessive polycystic kidney disease (ARPKD). Fibrocystin is expressed in ductal plate cells during bile duct development. PKD1/PKD2 mutations cause autosomal dominant PKD and may cause choledochal cysts but not the Caroli syndrome spectrum. ABCB4 mutations cause progressive familial intrahepatic cholestasis type 3.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

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Written and medically reviewed by the StethoPrep medical team.