Caroli syndrome

Ca·ro·li syn·drome

(kah-rō'lē),
congenital malformation of the bile ducts within the liver leading to formation of multifocal cystic dilatations.

Ca·ro·li dis·ease

, Caroli syndrome (kah-rō-lē' di-zēz', sin'drōm)
Congenital cystic dilation of the intrahepatic bile ducts, sometimes associated with intrahepatic stones and biliary obstruction.
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References in periodicals archive ?
Patients with Caroli Syndrome are at a high risk of developing portal hypertension and liver failure due to recurrent cholangitis and biliary obstruction.
An association between Caroli Syndrome and HPS has not been established.
Patient is a 6-year-old girl with Caroli Syndrome, autosomal recessive polycystic kidney disease, and end-stage renal disease (ESRD) status postbilateral nephrectomy on hemodialysis.
An abdominal CT scan showed mild biliary ductal dilatation and ascites associated with portal hypertension/hepatic cirrhosis, which is consistent with her history of Caroli Syndrome. An arterial blood gas on room air showed pH: 7.43, PC[O.sub.2]: 50, P[O.sub.2]: 51, HC[O.sub.3]: 33, BE: 8, and Sat: 87% with a calculated A-a gradient of 36 mmHg (normal < 15).
No previous case reports have described an association between Caroli Syndrome and HPS.
No direct relationship has been described between Hepatopulmonary Syndrome and Caroli Syndrome. We speculate that progressive liver damage with portal hypertension as sequelae of a congenital liver disorder may have similar implications to chronic liver failure in adults.
Our patient showed a triad of hypoxemia and chronic liver failure with portal hypertension secondary to Caroli Syndrome and evidence of a contrast echocardiography consistent with intrapulmonary shunting.
In our study, patients of Caroli syndrome were excluded because they were diagnosed on the basis of computed tomography (CT) scan of the abdomen and liver biopsies were not performed due to dilated biliary ducts.
[7] PKHD1, the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys.
If both the large and small ducts are affected and both features of congenital hepatic fibrosis and Caroli disease are present, this entity is termed Caroli syndrome. (90-92)
(5-8) More than 300 cases of Caroli disease and Caroli syndrome (Caroli disease associated with congenital hepatic fibrosis) have been reported in the world literature, (9) and cholangiocarcinoma has been found in 7% to 14% of the cases.